AiPD: Autoinhibited Protein Database

P05106

Gene name	ITGB3
Protein name	Integrin beta-3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3690
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

733-788 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

733-788 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

98 structures for P05106

Entry ID	Method	Resolution	Chain	Position	Source
1JV2	X-ray	310 A	B	27-718	PDB
1KUP	NMR	-	B	742-766	PDB
1KUZ	NMR	-	B	742-766	PDB
1L5G	X-ray	320 A	B	27-718	PDB
1M1X	X-ray	330 A	B	27-718	PDB
1M8O	NMR	-	B	742-788	PDB
1MIZ	X-ray	190 A	A	765-769	PDB
1MK7	X-ray	220 A	A/C	765-775	PDB
1MK9	X-ray	280 A	A/C/E/G	765-776	PDB
1S4X	NMR	-	A	742-788	PDB
1TYE	X-ray	290 A	B/D/F	27-466	PDB
1U8C	X-ray	310 A	B	27-718	PDB
2K9J	NMR	-	B	711-753	PDB
2KNC	NMR	-	B	715-788	PDB
2KV9	NMR	-	B	739-788	PDB
2L1C	NMR	-	B	762-788	PDB
2L91	NMR	-	A	711-753	PDB
2LJD	NMR	-	A	742-788	PDB
2LJE	NMR	-	A	742-788	PDB
2LJF	NMR	-	A	742-788	PDB
2MTP	NMR	-	C	742-788	PDB
2N9Y	NMR	-	B	712-753	PDB
2Q6W	X-ray	225 A	C/F	50-61	PDB
2RMZ	NMR	-	A	711-753	PDB
2RN0	NMR	-	A	711-753	PDB
2VC2	X-ray	310 A	B	27-487	PDB
2VDK	X-ray	280 A	B	27-487	PDB
2VDL	X-ray	275 A	B	27-487	PDB
2VDM	X-ray	290 A	B	27-487	PDB
2VDN	X-ray	290 A	B	27-487	PDB
2VDO	X-ray	251 A	B	27-487	PDB
2VDP	X-ray	280 A	B	27-487	PDB
2VDQ	X-ray	259 A	B	27-487	PDB
2VDR	X-ray	240 A	B	27-487	PDB
3FCS	X-ray	255 A	B/D	27-716	PDB
3FCU	X-ray	290 A	B/D/F	27-487	PDB
3IJE	X-ray	290 A	B	27-721	PDB
3NID	X-ray	230 A	B/D	27-497	PDB
3NIF	X-ray	240 A	B/D	27-497	PDB
3NIG	X-ray	225 A	B/D	27-497	PDB
3T3M	X-ray	260 A	B/D	27-498	PDB
3T3P	X-ray	220 A	B/D	27-498	PDB
3ZDX	X-ray	245 A	B/D	27-498	PDB
3ZDY	X-ray	245 A	B/D	27-498	PDB
3ZDZ	X-ray	275 A	B/D	27-498	PDB
3ZE0	X-ray	295 A	B/D	27-498	PDB
3ZE1	X-ray	300 A	B/D	27-498	PDB
3ZE2	X-ray	235 A	B/D	27-498	PDB
4CAK	EM	2050 A	B	27-716	PDB
4G1E	X-ray	300 A	B	27-717	PDB
4G1M	X-ray	290 A	B	27-718	PDB
4MMX	X-ray	332 A	B	27-718	PDB
4MMY	X-ray	318 A	B	27-718	PDB
4MMZ	X-ray	310 A	B	27-718	PDB
4O02	X-ray	360 A	B	27-718	PDB
4Z7N	X-ray	260 A	B/D	29-497	PDB
4Z7O	X-ray	285 A	B/D	29-497	PDB
4Z7Q	X-ray	270 A	B/D	27-497	PDB
5HDB	X-ray	270 A	B/D	27-497	PDB
6AVQ	EM	3500 A	B	27-718	PDB
6AVR	EM	3500 A	B	27-718	PDB
6AVU	EM	3500 A	B	27-718	PDB
6BXB	X-ray	239 A			PDB
6BXF	X-ray	320 A			PDB
6BXJ	X-ray	209 A			PDB
6CKB	X-ray	280 A			PDB
6MK0	X-ray	300 A	B	30-716	PDB
6MSL	X-ray	310 A	B	27-721	PDB
6MSU	X-ray	311 A	B	27-721	PDB
6NAJ	X-ray	310 A	B	27-716	PDB
6V4P	EM	280 A	B	1-690	PDB
7KN0	NMR	-	B	712-753	PDB
7L8P	X-ray	235 A	B/D	27-498	PDB
7LA4	EM	330 A	B	1-788	PDB
7TCT	X-ray	250 A	B/D	27-498	PDB
7TD8	X-ray	260 A	B/D	27-497	PDB
7THO	X-ray	275 A	B/D	27-497	PDB
7TMZ	X-ray	220 A	B/D	27-497	PDB
7TPD	X-ray	260 A	B/D	27-497	PDB
7U60	X-ray	255 A	B/D	27-497	PDB
7U9F	X-ray	270 A	B/D	27-497	PDB
7U9V	X-ray	225 A	B/D	27-497	PDB
7UBR	X-ray	205 A	B/D	27-498	PDB
7UCY	X-ray	235 A	B/D	27-498	PDB
7UDG	X-ray	280 A	B/D	27-498	PDB
7UDH	X-ray	200 A	B/D	27-498	PDB
7UE0	X-ray	274 A	B/D	27-498	PDB
7UFH	X-ray	300 A	B/D	27-498	PDB
7UH8	X-ray	275 A	B/D	27-498	PDB
7UJE	X-ray	250 A	B/D	27-497	PDB
7UJK	X-ray	243 A	B/D	27-498	PDB
7UK9	X-ray	260 A	B/D	27-498	PDB
7UKO	X-ray	260 A	B/D	27-498	PDB
7UKP	X-ray	280 A	B/D	27-498	PDB
7UKT	X-ray	237 A	B/D	27-498	PDB
8T2U	EM	310 A	B	27-788	PDB
8T2V	EM	340 A	B	27-788	PDB
AF-P05106-F1	Predicted				AlphaFoldDB

653 variants for P05106

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8622827 RCV002556788 RCV001127479 rs752525603	6	R>W	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA291240262 rs995924582 RCV001127480	7	P>S	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1022839092 RCV001360644 RCV001225262 CA291240306	11	W>R	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000364007 RCV000224944 CA8622831 rs115600591	14	V>M	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000851823 rs1302506624	19	A>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs75427428 RCV001290487 CA8622852	34	R>*	Variant assessed as Somatic; 4.721e-05 impact. Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [NCI-TCGA, Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001225279 rs1880497383	39	C>G	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV001225265 rs2065055824	42	C>*	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV001799606 VAR_003993 RCV001517663 RCV000014519 RCV000383813 CA123235 rs5918 RCV000246922	59	L>P	Myocardial infarction, susceptibility to Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM alloantigen HPA-1B [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2065090622 RCV001225300	59	L>V	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs199866795 CA8622892 RCV000778500	63	R>C	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_069920 CA291224490 rs74554539	64	C>Y	Glanzmann thrombasthenia (gt) GT2; severe type 1 phenotype; the mutation prevents normal ITGA2B/ITGB3 complex expression [Ensembl, UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV001270572 rs36080296 VAR_049633 CA8622895 RCV000860861 RCV001123376	66	L>R	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753932639 RCV001225301	75	C>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
CA400020703 rs1399113954 RCV001290503	88	R>*	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8622904 rs200358667 RCV000852096	88	R>Q	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000761244 rs1567764064	109	V>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV002261286 rs72547409 CA8622917 RCV001124483	116	L>F	Bleeding disorder, platelet-type, 24 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA291224511 RCV001290460 rs368325996	118	L>H	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP
rs147782061 CA8622925 RCV001290502 RCV001376908	119	R>Q	Variant assessed as Somatic; 0.0 impact. Glanzmann thrombasthenia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8622924 VAR_030473 RCV001003532 rs781062792	119	R>W	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001290462 rs2065095545	138	V>M	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
VAR_030474	141	Y>C	GT2 [UniProt]	Yes	UniProt
RCV000014535 CA123252 RCV001580250 rs121918452 VAR_010649	143	L>W	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA291224645 RCV001290482 VAR_069921 RCV002222693 rs77963874	144	M>R	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2; severe type 1 phenotype; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121918445 RCV000851787 CA400021939 VAR_030475	145	D>N	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA123226 RCV000014513 RCV001374370 VAR_003998 rs121918445	145	D>Y	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2; type B [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_030476 CA8622961 RCV001225290 RCV002280901 RCV002254202 rs767548512 RCV002281175	150	M>V	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2; may confer constitutive activity to the alpha-IIb/(mutated)beta-3 receptor [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA291224658 RCV001225299 rs1038392991	169	R>*	Variant assessed as Somatic; impact. Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [NCI-TCGA, Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA123232 RCV001818157 rs5917 RCV000861957 RCV000014516 VAR_003994 RCV001124484	169	R>Q	PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia alloantigen HPA-4B [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8622980 RCV003222153 RCV000862152 rs61736876 RCV001816941	186	P>L	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8622981 rs143146734 VAR_010651	188	S>L	GT2; type II [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs958609406 CA291224669 RCV001003533	189	P>S	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2065102210 RCV001225284	210	C>S	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV001290496 rs2065102310 RCV002222694	216	Y>C	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV001290457 VAR_030478 rs79208797 CA291224887 RCV002254211	222	L>P	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2; variant form [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs763017753 RCV001124485 RCV002556697 CA8623019	224	D>N	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001290472 RCV002245948 rs746626039	237	S>missing	Glanzmann thrombasthenia Platelet-type bleeding disorder 16 [ClinVar]	Yes	ClinVar dbSNP
CA123224 RCV000014512 RCV002243642 VAR_003999 RCV001580254 RCV003137524 rs121918444	240	R>Q	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia Platelet-type bleeding disorder 16 GT2; type B [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001580253 CA123228 rs121918446 VAR_004000 RCV002243643 RCV000014514 RCV002513046	240	R>W	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia 2 Glanzmann thrombasthenia GT2; variant Strasbourg-1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs758633284 CA400023596 RCV001290458	242	R>*	Variant assessed as Somatic; impact. Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [NCI-TCGA, Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs377162158 CA291224896 VAR_030479	242	R>Q	GT2 [UniProt]	Yes	ClinGen UniProt ESP TOPMed dbSNP
CA400023600 rs1598690937 RCV000985156	243	D>H	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_030480	243	D>V	GT2 [UniProt]	Yes	UniProt
CA123256 RCV001580231 RCV000014537 VAR_069922 rs79560904	247	G>D	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2; severe type 1 phenotype; the mutation prevents normal ITGA2B/ITGB3 complex expression on the cell surface; the mutation may interfere with correct folding of the protein [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000415046 RCV003221968 RCV001197460 rs1057518838 CA16043530	250	D>G	Glanzmann thrombasthenia Platelet-type bleeding disorder 16 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000861463 RCV001124486 rs56173532 CA8623033	252	I>V	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001290469 rs2065102917	254	Q>K	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs1598690979 CA400023678 RCV000851871	254	Q>R	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2065103002 RCV001225289	258	C>*	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs79775494 CA123254 RCV001580229 VAR_069923 RCV000014536	279	K>M	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2; severe type 1 phenotype; the mutation prevents normal ITGA2B/ITGB3 complex expression on the cell surface; the mutation interupts the interaction of the ITGA2B/ITGB3 complex [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs1199275720 CA400024919 CA400024922 RCV000851903 RCV002510970	286	G>R	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_030481	288	L>P	GT2 [UniProt]	Yes	UniProt
rs1193381168 RCV001225285	293	Q>*	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
CA8623074 rs756088530 RCV001124487 COSM3719409	297	G>R	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia haematopoietic_and_lymphoid_tissue [Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA291224999 VAR_004001 rs13306476	306	H>P	GT2 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs2065117736 RCV001290453	314	D>A	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV001290470 rs2065117726	314	D>Y	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
CA400025639 rs1424237752 RCV001225261	318	L>S	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_030482	321	M>L	GT2 [UniProt]	Yes	UniProt
CA8623105 RCV003222152 RCV000861656 rs147263592	324	K>E	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8623107 RCV000295402 RCV001850730 rs201550717	329	N>D	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_030483	330	I>N	GT2; not expressed on the surface and absent inside the transfected cells [UniProt]	Yes	UniProt
rs2065118104 RCV001225260	344	Y>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
CA400027662 RCV001125482 rs1231109822	386	R>H	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001801833 RCV000014530 rs121918449 VAR_004002 CA123244	400	C>Y	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia GT2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001125483 rs78121013 CA8623193	411	S>F	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_003995 RCV001818158 RCV000014525 CA123238 rs121918448	433	P>A	Mo ALLOANTIGEN POLYMORPHISM alloantigen MO(+); in a case of neonatal alloimmune thrombocytopenia [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000282576 rs765171372	437	E>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV000851688 rs1598694640 CA400028942	456	T>P	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1555572829 CA400028982 RCV000515766	458	D>G	Fetal and neonatal alloimmune thrombocytopenia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1386425657 RCV000852023	470	N>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs1255017270 RCV001225244	486	C>W	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
RCV002558237 RCV001125485 rs369140365 RCV003147592 CA8623267 RCV002482242	487	R>C	Myocardial infarction, susceptibility to Variant assessed as Somatic; 0.0 impact. Bleeding disorder, platelet-type, 24 Glanzmann thrombasthenia [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001127592 rs13306487 RCV000014528 RCV000862496 VAR_003996 CA123241	515	R>Q	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia Ca/Tu ALLOANTIGEN POLYMORPHISM alloantigen CA(+)/TU(+) [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1393664515 RCV001225297	517	G>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
CA8623288 RCV000301602 rs750612657	520	V>I	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA400029953 rs1397448267 RCV001225242	532	C>R	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_030484 RCV001225239 rs2065130922	532	C>Y	Glanzmann thrombasthenia GT2 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
RCV001254668 rs185135224	547	C>*	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs2065131166 RCV002254718 RCV001055159	547	C>Y	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
CA400030198 rs1395325049 RCV001290468	549	C>S	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2065157059 RCV001254669	566	G>D	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
CA16043531 RCV001197459 rs1057518837 RCV000414924 RCV003221967	567	Q>*	Glanzmann thrombasthenia Platelet-type bleeding disorder 16 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_010671 RCV001225240 rs2065157102	568	C>R	Glanzmann thrombasthenia GT2; type I [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
RCV001290471 CA8623343 rs141912699	578	D>N	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_004003	586	C>F	GT2 [UniProt]	Yes	UniProt
VAR_030485	586	C>R	GT2; gain-of-function mutation; constitutively binds ligand-induced binding sites antibodies and the fibrinogen-mimetic antibody PAC-1 [UniProt]	Yes	UniProt
RCV001225286 rs780710721	597	N>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
VAR_004004	598	G>S	GT2 [UniProt]	Yes	UniProt
rs747534508 RCV001290476	601	C>G	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs747534508 CA8623361 VAR_030486	601	C>R	Glanzmann thrombasthenia (gt) GT2 [Ensembl, UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA8623363 rs781502355 RCV001127595 RCV000852056	603	G>S	Variant assessed as Somatic; 0.0 impact. Glanzmann thrombasthenia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA291227621 VAR_010672 rs144884023	605	G>S	Variant assessed as Somatic; 0.0 impact. GT2; type II [NCI-TCGA, UniProt]	Yes	ClinGen UniProt ESP NCI-TCGA TOPMed dbSNP gnomAD
RCV001290456 rs1181336139 CA400032726	624	C>Y	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs121918451 RCV000014533 RCV001851854 RCV001801834 CA123249	642	E>*	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001123488 RCV000490340 rs70940817 CA8623406 RCV000865543	654	E>K	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia Platelet-type bleeding disorder 16 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8623411 VAR_003997 rs151219882 RCV001123489	662	R>C	Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia alloantigen SR(A) [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000394836 CA8623412 RCV001820974 rs369443204	662	R>H	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs780384800 RCV001225288	705	L>missing	Glanzmann thrombasthenia [ClinVar]	Yes	ClinVar dbSNP
rs138729147 CA8623445 RCV000363147 RCV002521113	711	P>S	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8623476 rs754764865 RCV002261473	737	A>T	Variant assessed as Somatic; 0.0 impact. Bleeding disorder, platelet-type, 24 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000043482 rs398122374 CA143712	744	L>P	Bleeding disorder, platelet-type, 24 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_081732	746	T>del	BDPLT24; the mutant protein is constitutively active; decreased platelet surface expression; spontaneous FAK phosphosphorylation; abnormal cell shape [UniProt]	Yes	UniProt
RCV000043480 CA143709 rs398122372 VAR_069924	749	D>H	Bleeding disorder, platelet-type, 24 BDPLT24; the mutant protein is constitutively active; spontaneous FAK phosphosphorylation; abnormal cell shape [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs121918450 RCV001374371 RCV003128571 RCV001335177 CA123246 RCV000014532 RCV002243644	750	R>*	Glanzmann thrombasthenia 1 Variant assessed as Somatic; 0.0 impact. Glanzmann thrombasthenia 2 Glanzmann thrombasthenia Platelet-type bleeding disorder 16 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000014515 CA123230 rs121918447 VAR_004005 RCV001801832	778	S>P	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia (gt) Glanzmann thrombasthenia GT2; variant Strasbourg-1 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA400034866 RCV001290477 rs1377491769	786	R>W	Glanzmann thrombasthenia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA400028202 rs1343433641	2	R>Q		No	ClinGen gnomAD
CA400028213 rs1337664600	3	A>P		No	ClinGen TOPMed
CA400028219 rs1286557894	3	A>V		No	ClinGen TOPMed
rs897126842 CA291240235	5	P>L		No	ClinGen TOPMed gnomAD
rs897126842 CA400028241	5	P>R		No	ClinGen TOPMed gnomAD
CA400028244 rs752525603	6	R>G		No	ClinGen ExAC TOPMed gnomAD
rs762907751 CA8622828	6	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762907751 CA400028249	6	R>P		No	ClinGen ExAC TOPMed gnomAD
CA400028261 rs1216806597	7	P>L		No	ClinGen TOPMed gnomAD
CA400028271 rs910005054	8	R>P		No	ClinGen TOPMed gnomAD
rs910005054 CA291240277	8	R>Q		No	ClinGen TOPMed gnomAD
rs952078066 CA291240271	8	R>W		No	ClinGen TOPMed gnomAD
CA8622829 rs763800456	9	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400028290 rs1489964393	10	L>F		No	ClinGen gnomAD
rs1489964393 CA400028288	10	L>V		No	ClinGen gnomAD
CA291240308 rs941154306	11	W>L		No	ClinGen TOPMed
CA291240315 rs971134148	12	A>T		No	ClinGen Ensembl
rs1051430 CA291240339	12	A>V		No	ClinGen Ensembl
CA400028322 rs1327039997	13	T>I		No	ClinGen TOPMed
rs1157059502 CA400028344	16	A>S		No	ClinGen gnomAD
CA400028365 rs1444188478	18	G>E		No	ClinGen TOPMed gnomAD
rs749973154 CA8622834	18	G>R		No	ClinGen ExAC TOPMed gnomAD
CA400028398 rs772418775	21	A>G		No	ClinGen ExAC TOPMed gnomAD
RCV000523191 rs772418775 CA8622838	21	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs778013385 CA8622839	23	V>F		No	ClinGen ExAC TOPMed gnomAD
rs891252528 CA291240422	24	G>V		No	ClinGen TOPMed
CA400028441 rs1291704461	25	V>I		No	ClinGen gnomAD
rs1207144046 CA400028465	26	G>A		No	ClinGen gnomAD
rs1037047731 CA291240434	27	G>R		No	ClinGen Ensembl
CA291259004 rs967611155	29	N>D		No	ClinGen TOPMed gnomAD
CA400031573 rs1567761788	29	N>K		No	ClinGen Ensembl
CA8622851 rs544276300	33	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8622853 rs765882558	34	R>L		No	ClinGen ExAC TOPMed gnomAD
CA400031625 rs1235786723	35	G>S		No	ClinGen gnomAD
CA8622854 rs753146344	37	S>R		No	ClinGen ExAC TOPMed gnomAD
rs758852422 CA8622855	40	Q>H		No	ClinGen ExAC gnomAD
rs368427993 CA400031694	41	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368427993 CA8622856	41	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1049301396 CA291259059	42	C>W		No	ClinGen Ensembl
rs955185698 CA291259063	44	A>P		No	ClinGen TOPMed
rs1359625417 CA400031732	45	V>A		No	ClinGen TOPMed
rs1215456865 CA400031727	45	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs747375836 CA8622857	48	M>V		No	ClinGen ExAC TOPMed gnomAD
CA400031777 rs1178301698	49	C>Y		No	ClinGen TOPMed gnomAD
rs530929045 CA291259077	50	A>V		No	ClinGen gnomAD
CA8622859 rs781627407	52	C>F		No	ClinGen ExAC gnomAD
rs781627407 CA400031810	52	C>Y		No	ClinGen ExAC gnomAD
CA291259110 rs888066695	54	D>H		No	ClinGen TOPMed
rs888066695 CA400031829	54	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400031836 rs1430769323	54	D>V		No	ClinGen gnomAD
rs748124796 CA8622884	56	A>D		No	ClinGen ExAC gnomAD
CA400020363 rs1598689356	56	A>P		No	ClinGen Ensembl
rs748124796 CA400020371	56	A>V		No	ClinGen ExAC gnomAD
rs1166020097 CA400020415	60	G>V		No	ClinGen gnomAD
CA8622891 rs751951989	61	S>*		No	ClinGen ExAC gnomAD
rs764807084 CA8622890	61	S>P		No	ClinGen ExAC gnomAD
CA8622893 rs370054364	63	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs74554539 CA400020465	64	C>F	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen Ensembl
TCGA novel	68	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370367308 CA400020530	69	N>D		No	ClinGen TOPMed
CA400020546 rs1207911890	71	L>V		No	ClinGen gnomAD
rs753950788 CA8622898	73	D>N		No	ClinGen ExAC TOPMed gnomAD
CA400020562 rs1567764019	73	D>V		No	ClinGen Ensembl
CA400020572 rs1567764020	74	N>K		No	ClinGen Ensembl
CA400020586 rs1235905496	76	A>V		No	ClinGen gnomAD
CA400020591 rs148562034	77	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148562034 CA8622900	77	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA291224495 rs1021760478	79	S>A		No	ClinGen TOPMed gnomAD
rs1183650785 CA400020610	80	I>V		No	ClinGen gnomAD
CA400020622 rs1415904440	81	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400020648 rs1422788294	82	F>L		No	ClinGen TOPMed
CA400020698 rs1457819438	87	A>P		No	ClinGen gnomAD
rs770559883 CA8622906	91	E>Q		No	ClinGen ExAC gnomAD
CA400020762 rs1180530619	93	R>S		No	ClinGen TOPMed
rs1382006121 CA400020779	94	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA291224502 rs922614540	97	D>E		No	ClinGen Ensembl
rs1339834843 CA400020818	97	D>N		No	ClinGen TOPMed gnomAD
CA8622910 rs775095815	99	G>S		No	ClinGen ExAC TOPMed gnomAD
CA291224505 rs972711023	102	D>Y		No	ClinGen TOPMed gnomAD
rs1462372465 CA400020922	103	S>N		No	ClinGen gnomAD
CA400020950 rs1241969919	104	S>F		No	ClinGen gnomAD
CA400020934 rs1183708165	104	S>P		No	ClinGen gnomAD
rs768184261 CA8622912	105	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1186091732 CA400020987	106	V>F		No	ClinGen TOPMed gnomAD
rs1186091732 CA400020981	106	V>I		No	ClinGen TOPMed gnomAD
CA8622913 rs750801874	110	S>R		No	ClinGen ExAC gnomAD
CA8622914 rs78408552	112	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8622915 rs766857301	114	I>T		No	ClinGen ExAC gnomAD
rs1471061006 CA400021206	115	A>T		No	ClinGen gnomAD
rs72547409 CA8622918	116	L>V	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs746952064 CA8622922	117	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV001270533 CA8622921 rs777748046	117	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1476817749 TCGA novel CA400021536	121	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA291224632 rs1039892640	121	D>G		No	ClinGen TOPMed gnomAD
CA8622947 rs755704884	123	S>L		No	ClinGen ExAC gnomAD
rs1161433167 CA400021609	124	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1419134451 CA400021707	128	I>T		No	ClinGen gnomAD
CA400021692 rs1199474400	128	I>V		No	ClinGen TOPMed
rs281864909 CA8622949	129	Q>*		No	ClinGen ExAC gnomAD
rs281864909 CA291224635	129	Q>K		No	ClinGen ExAC gnomAD
CA8622950 rs768225207	129	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs774022747 CA8622951	130	V>M		No	ClinGen ExAC gnomAD
rs201806801 CA8622954	131	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8622953 rs201806801	131	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199866698 CA8622952	131	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8622955 rs201125736	133	V>G		No	ClinGen ExAC gnomAD
CA291224640 rs765375492	134	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8622956 rs765375492	134	E>G		No	ClinGen ExAC TOPMed gnomAD
rs775629220 CA8622957	135	D>G		No	ClinGen ExAC gnomAD
rs1259151343 CA400021822	137	P>R		No	ClinGen TOPMed
CA400021857 rs1362212814	140	I>L		No	ClinGen gnomAD
TCGA novel	149	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	150	M>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767548512 CA400022009	150	M>L	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen ExAC gnomAD
CA8622962 rs750179673	152	D>A		No	ClinGen ExAC gnomAD
CA8622963 rs755870519	155	W>R		No	ClinGen ExAC gnomAD
CA8622964 rs780010801	156	S>G		No	ClinGen ExAC
CA8622965 rs748901429	158	Q>R		No	ClinGen ExAC gnomAD
rs868080468 CA291224653	161	G>D		No	ClinGen Ensembl
rs80115510 CA291224655	163	K>Q		No	ClinGen TOPMed
CA291224656 rs74708909 VAR_030477	166	T>I	associated with neonatal thrombocytopenia; alloantigen Duv(a+); does not affect significantly the integrin function [UniProt]	No	ClinGen UniProt Ensembl dbSNP
CA8622967 rs376401679	167	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA291224660 rs780569847	172	T>A		No	ClinGen gnomAD
CA400022999 rs1180902709	172	T>I		No	ClinGen gnomAD
CA400023014 rs1567764371	173	S>I		No	ClinGen Ensembl
rs879083862 CA291224662	174	N>S		No	ClinGen Ensembl
CA400023052 rs1444020101	176	R>Q		No	ClinGen gnomAD
rs781757993 CA8622969	176	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375645378 CA8622970	177	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs569479486 CA8622972	180	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8622973 rs763127353	181	A>S		No	ClinGen ExAC gnomAD
rs1320302840 CA400023120	181	A>V		No	ClinGen TOPMed gnomAD
rs774400643 CA8622975	183	V>G		No	ClinGen ExAC
rs202100960 CA8622977	184	D>E		No	ClinGen ExAC gnomAD
CA8622976 rs762019352	184	D>N		No	ClinGen ExAC gnomAD
rs370284989 CA8622979	186	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8622978 rs370284989	186	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370284989 CA400023167	186	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs374511162 CA291224672	190	Y>H		No	ClinGen ESP
rs1399140326 CA400023234	190	Y>S		No	ClinGen gnomAD
rs757861553 CA8622986	191	M>T		No	ClinGen ExAC gnomAD
CA8622985 rs752148028	191	M>V		No	ClinGen ExAC gnomAD
CA8622987 rs777168504	192	Y>C		No	ClinGen ExAC gnomAD
rs1598690169 CA400023285	197	E>A		No	ClinGen Ensembl
CA400023298 rs1238963431	199	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8622990 rs543887885	200	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400023315 rs1216762390	201	N>K		No	ClinGen gnomAD
CA8622992 rs780370658	202	P>L		No	ClinGen ExAC gnomAD
rs749710272 CA8622993	203	C>Y		No	ClinGen ExAC gnomAD
CA8622994 rs768860879	204	Y>C		No	ClinGen ExAC gnomAD
CA8623012 rs779166548	205	D>E		No	ClinGen ExAC gnomAD
rs372055831 CA291224884	212	P>L		No	ClinGen ESP TOPMed gnomAD
CA400023405 rs1598690861	213	M>V		No	ClinGen Ensembl
CA400023455 rs1311161158	219	V>A		No	ClinGen TOPMed
rs747116356 CA8623016	219	V>M		No	ClinGen ExAC gnomAD
CA8623017 rs770992614	221	T>M		No	ClinGen ExAC TOPMed gnomAD
rs765078053 CA400023482	224	D>E		No	ClinGen ExAC TOPMed gnomAD
rs775185956 CA8623021	225	Q>R		No	ClinGen ExAC gnomAD
CA8623024 rs763708273	228	R>C		No	ClinGen ExAC TOPMed gnomAD
rs763708273 CA8623023	228	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756689153 CA8623025	228	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756689153 CA400023503	228	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754292241 CA8623027	230	N>S		No	ClinGen ExAC gnomAD
CA400023532 rs1224503309	232	E>G		No	ClinGen gnomAD
CA400023550 rs1315914828	235	K>Q		No	ClinGen TOPMed
CA8623028 rs755511654	235	K>R		No	ClinGen ExAC gnomAD
rs779306732 CA8623030 CA400023571	237	S>R		No	ClinGen ExAC gnomAD
CA400023655 rs1189962833	251	A>S		No	ClinGen gnomAD
CA400023667 CA400023665 rs1405065492	253	M>L		No	ClinGen TOPMed gnomAD
CA8623034 rs771080439	256	T>A		No	ClinGen ExAC gnomAD
rs776875095 CA8623035	257	V>I		No	ClinGen ExAC gnomAD
CA400023710 rs1290660101	259	D>G		No	ClinGen TOPMed
rs200636313 CA8623058	261	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	261	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400024319 rs1339386170	262	I>T		No	ClinGen TOPMed
TCGA novel	263	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257571006 CA400024334	263	G>D		No	ClinGen TOPMed gnomAD
rs368829511 CA8623059	263	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400024376 rs1442321434	264	W>*		No	ClinGen gnomAD
rs1567764961 CA400024359	264	W>G		No	ClinGen Ensembl
rs761425776 CA8623060	265	R>G		No	ClinGen ExAC gnomAD
CA400024407 rs771763693	266	N>D		No	ClinGen ExAC TOPMed gnomAD
CA8623061 rs771763693	266	N>H		No	ClinGen ExAC TOPMed gnomAD
CA400024478 rs772696780	268	A>S		No	ClinGen ExAC gnomAD
CA8623062 rs772696780	268	A>T		No	ClinGen ExAC gnomAD
rs1170244000 CA400024500	269	S>Y		No	ClinGen gnomAD
CA8623063 rs760245142	270	H>Y		No	ClinGen ExAC gnomAD
CA8623066 rs753092292	272	L>M		No	ClinGen ExAC TOPMed gnomAD
CA400024632 rs1394242727	273	V>A		No	ClinGen gnomAD
rs1299915744 CA400024739	277	D>V		No	ClinGen gnomAD
CA400024768 rs1340898530	279	K>E		No	ClinGen gnomAD
rs1275971076 CA400024779	279	K>N		No	ClinGen gnomAD
rs763541283 CA8623067	280	T>I		No	ClinGen ExAC gnomAD
rs1598691428 CA919851679	282	I>R*		No	ClinGen Ensembl
rs1461824625 CA400024819	282	I>V		No	ClinGen TOPMed
CA291224991 rs1030376868	283	A>T		No	ClinGen TOPMed
rs781625616 CA8623072	290	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400025019 rs1193381168	293	Q>E		No	ClinGen TOPMed gnomAD
CA291224994 rs983542794	295	N>S		No	ClinGen TOPMed gnomAD
CA291224996 rs893907315	298	Q>H		No	ClinGen Ensembl
rs780204608 CA8623075	299	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	300	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418937174 CA400025163	302	G>S		No	ClinGen gnomAD
CA400025187 rs1212401188	304	D>G		No	ClinGen TOPMed
rs768677385 CA8623077	305	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8623078 rs768677385	305	N>T		No	ClinGen ExAC gnomAD
CA8623079 rs13306476	306	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1598691502 CA400025206	307	Y>S		No	ClinGen Ensembl
rs772785068 CA8623081	308	S>F		No	ClinGen ExAC gnomAD
CA400025230 rs1328852554	311	T>A		No	ClinGen gnomAD
CA8623082 rs760392532	312	T>S		No	ClinGen ExAC gnomAD
CA400025626 rs1202951004	316	P>T		No	ClinGen TOPMed
CA8623104 rs745447879	317	S>F		No	ClinGen ExAC gnomAD
rs773664684 CA8623109	331	N>H		No	ClinGen ExAC gnomAD
CA8623110 rs760785007	338	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8623111 rs766683852	339	N>S		No	ClinGen ExAC gnomAD
TCGA novel	340	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296060916 CA400025787	340	V>I		No	ClinGen TOPMed
CA8623112 rs146336675	342	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs943122888 CA291225376	343	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA400025820 rs1258885678	345	Q>E		No	ClinGen gnomAD
rs974965422 CA291225429	348	S>G		No	ClinGen TOPMed gnomAD
CA8623140 rs377062987	349	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	350	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400026112 rs1421979003	353	G>A		No	ClinGen gnomAD
CA400026165 rs1284573407	356	V>A		No	ClinGen TOPMed gnomAD
CA400026166 rs1284573407	356	V>G		No	ClinGen TOPMed gnomAD
CA400026162 rs1340187209	356	V>I		No	ClinGen gnomAD
CA400026163 rs1340187209	356	V>L		No	ClinGen gnomAD
TCGA novel	359	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201786330 CA291225432	361	M>V		No	ClinGen 1000Genomes gnomAD
rs150029332 CA8623143	362	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1278185386 CA400026314	367	L>V		No	ClinGen gnomAD
CA291225435 rs753885425	370	I>M		No	ClinGen Ensembl
rs371006520 CA8623146	370	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA291225437 rs755059759	373	A>D		No	ClinGen Ensembl
CA400027496 rs1296288564	376	K>T		No	ClinGen TOPMed
rs768738760 CA8623172	377	I>T		No	ClinGen ExAC
rs774332906 CA8623173	378	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761786428 CA8623174	378	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1246776222 CA400027589	382	E>K		No	ClinGen gnomAD
CA400027649 rs1284550906	385	V>G		No	ClinGen gnomAD
CA8623177 rs760480847	386	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760480847 CA8623178	386	R>G		No	ClinGen ExAC TOPMed gnomAD
CA400027664 rs1231109822	386	R>P		No	ClinGen gnomAD
rs1598693824 CA400027674	387	D>A		No	ClinGen Ensembl
CA8623179 rs753494130	387	D>N		No	ClinGen ExAC gnomAD
CA400027687 rs1318066750	388	L>F		No	ClinGen gnomAD
CA8623180 rs754620094	389	P>L		No	ClinGen ExAC gnomAD
rs1419839781 CA400027713	390	E>K		No	ClinGen TOPMed
rs764776760 CA8623183	393	S>C		No	ClinGen ExAC TOPMed gnomAD
rs148794549 CA8623184	394	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400027799 rs1238443919	395	S>P		No	ClinGen gnomAD
CA8623185 rs757773635	397	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8623186 rs781752220	399	T>P		No	ClinGen ExAC gnomAD
CA8623187 rs746384046	401	L>V		No	ClinGen ExAC gnomAD
rs1466270644 CA400027871	403	N>H		No	ClinGen gnomAD
rs756417514 CA8623188	403	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1206054247 CA400027876	404	E>K		No	ClinGen TOPMed
rs559147730 CA8623189	406	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs768808626 CA8623191	409	L>F		No	ClinGen ExAC gnomAD
rs774476583 CA8623192	410	K>R		No	ClinGen ExAC TOPMed gnomAD
CA400027940 rs1318397688	413	M>I		No	ClinGen TOPMed
rs1244038342 CA400027935	413	M>L		No	ClinGen gnomAD
rs186336620 CA8623196	417	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186336620 CA400027965	417	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186336620 CA8623195	417	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8623197 rs766237947	418	G>R		No	ClinGen ExAC gnomAD
rs147758772 CA8623199	420	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147758772 CA291225594	420	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA291225740 rs372644002	422	S>N		No	ClinGen ESP TOPMed
CA400028496 rs1380825590	423	F>C		No	ClinGen gnomAD
rs550153970 CA8623235	424	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8623236 rs745835951	425	I>F		No	ClinGen ExAC gnomAD
TCGA novel	426	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	427	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8623237 rs376656815	429	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458116788 CA400028591	430	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs369970972 CA8623238	430	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762488299 CA8623239	432	C>Y		No	ClinGen ExAC gnomAD
rs867671924 CA291225743	433	P>H		No	ClinGen Ensembl
rs121918448 CA291225742	433	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs121918448 CA8623240	433	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400028639 rs1598694591 RCV000852012	434	Q>H		No	ClinGen ClinVar Ensembl dbSNP
rs767028211 CA8623243	436	K>Q		No	ClinGen ExAC
CA8623244 rs754250394	437	E>*		No	ClinGen ExAC TOPMed gnomAD
CA400028676 rs754250394	437	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1439667740 CA400028687	437	E>D		No	ClinGen TOPMed
CA400028725 rs1244292502	440	F>Y		No	ClinGen TOPMed
CA400028739 rs760120858	441	T>I		No	ClinGen ExAC TOPMed gnomAD
rs760120858 CA8623245	441	T>S		No	ClinGen ExAC TOPMed gnomAD
rs377628203 CA8623247 COSM3387977	445	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1272716163 CA400028819	447	F>C		No	ClinGen gnomAD
rs1598694624 CA400028854	449	D>E		No	ClinGen Ensembl
CA8623248 rs758681983	450	S>G		No	ClinGen ExAC TOPMed gnomAD
VAR_014178 rs5921 CA8623249	453	V>I		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA8623250 rs751839386	454	Q>*		No	ClinGen ExAC gnomAD
CA400028929 rs1236170194	455	V>F		No	ClinGen gnomAD
CA400028951 rs1175362168	456	T>I		No	ClinGen gnomAD
CA8623251 rs553184182	459	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA291225748 rs553184182	459	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400029013 rs781359005	460	D>E		No	ClinGen ExAC TOPMed gnomAD
CA400029018 rs1376979666	461	C>R		No	ClinGen TOPMed
CA8623253 rs745757623	462	A>V		No	ClinGen ExAC gnomAD
rs756122334 CA8623255	464	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1598694663 CA400029069	464	Q>R		No	ClinGen Ensembl
CA8623256 rs779697325	465	A>S		No	ClinGen ExAC gnomAD
rs1353359754 CA400029112	467	A>D		No	ClinGen gnomAD
CA400029132 rs1567766808	468	E>D		No	ClinGen Ensembl
CA8623257 rs749146406	469	P>A		No	ClinGen ExAC gnomAD
CA400029141 rs1419472663	469	P>L		No	ClinGen TOPMed
CA291225750 rs749146406	469	P>T		No	ClinGen ExAC gnomAD
rs566673492 CA8623258	471	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773934919 CA8623259	471	S>R		No	ClinGen ExAC gnomAD
CA400029181 rs1292978768	472	H>R		No	ClinGen TOPMed gnomAD
rs1415766223 CA400029175	472	H>Y		No	ClinGen gnomAD
rs200388813 CA8623260	473	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200388813 CA291225751	473	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8623261 rs771443640	473	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA291225752 rs373990432	475	N>D		No	ClinGen Ensembl
CA8623262 rs145103142	476	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759939957 CA8623263	478	N>K		No	ClinGen ExAC gnomAD
CA8623264 rs765833982	479	G>E		No	ClinGen ExAC gnomAD
CA400029321 rs1598694712 RCV000852030	483	C>R		No	ClinGen ClinVar Ensembl dbSNP
rs1485911294 CA400029338	484	G>E		No	ClinGen gnomAD
CA400029349 rs1215695209	485	V>E		No	ClinGen TOPMed
rs914011403 CA400029373	487	R>H		No	ClinGen TOPMed gnomAD
rs914011403 CA291225756	487	R>L		No	ClinGen TOPMed gnomAD
rs369140365 CA8623268	487	R>S		No	ClinGen ExAC TOPMed gnomAD
rs757590667 CA8623270	490	P>S		No	ClinGen ExAC TOPMed gnomAD
CA291225757 rs945187786	491	G>C		No	ClinGen TOPMed
CA8623271 rs767469599	495	S>Y		No	ClinGen ExAC gnomAD
CA400029485 rs1219323655	496	Q>R		No	ClinGen TOPMed
CA8623272 rs750572541	501	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757588032 CA291225759	502	E>D		No	ClinGen Ensembl
CA8623273 rs755999489	504	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA291225761 rs955557532	505	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8623274 rs779974422	505	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA291225762 rs986948995	510	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs4642 CA400029696	511	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8623278 rs150951945	511	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs746598315 CA8623281	514	P>A		No	ClinGen ExAC TOPMed gnomAD
CA400029742 rs1241143401	514	P>L		No	ClinGen gnomAD
CA400029733 rs746598315	514	P>T		No	ClinGen ExAC TOPMed gnomAD
rs13306487 CA291225768	515	R>L	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs13306487 CA8623283	515	R>P	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8623282 rs150138754	515	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA400029752 rs1173518807	516	E>K		No	ClinGen TOPMed gnomAD
CA400029767 rs774902197	517	G>R		No	ClinGen ExAC TOPMed gnomAD
rs774902197 CA8623285	517	G>S		No	ClinGen ExAC TOPMed gnomAD
rs761924225 CA8623286	517	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8623289 rs750612657	520	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1055750969 CA291225772	521	C>W		No	ClinGen TOPMed
rs1295381929 CA400029831	522	S>G		No	ClinGen gnomAD
CA8623291 rs560812344	524	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8623290 rs145572861	524	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138793107 CA400029879	526	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs138793107 CA8623293	526	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224125442 CA400029901	527	C>F		No	ClinGen gnomAD
rs1283167300 CA400029904	527	C>W		No	ClinGen gnomAD
CA8623294 rs752547871	530	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	533	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8623297 rs746658402	543	T>A		No	ClinGen ExAC gnomAD
rs770430144 CA8623298	543	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749786355 CA8623300	545	K>E		No	ClinGen ExAC gnomAD
rs1399201652 CA400030149	546	Y>C		No	ClinGen gnomAD
rs902952044 CA291225782	547	C>G		No	ClinGen gnomAD
CA400030173 rs1241947599	548	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs762168403 CA8623303	551	D>N		No	ClinGen ExAC TOPMed gnomAD
rs370244559 CA8623305	556	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1033615758 CA291225788	560	E>K		No	ClinGen TOPMed gnomAD
rs766268682	560	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs146310248 CA8623309	561	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346060061 CA400030356	561	M>T		No	ClinGen TOPMed
CA400030370 rs1555572866	563	S>A		No	ClinGen Ensembl
CA400032324 rs1226052130	564	G>D		No	ClinGen gnomAD
CA400032331 rs1391996706	565	H>R		No	ClinGen TOPMed
TCGA novel	570	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400032375 rs1337992083	571	G>E		No	ClinGen gnomAD
CA400032378 rs1567768591	572	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs981638971 CA291227605	574	L>P		No	ClinGen Ensembl
CA400032407 rs1281534440	576	D>H		No	ClinGen gnomAD
CA8623342 rs141912699	578	D>H	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs141912699 CA400032420	578	D>Y	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs1264108219 CA400032438	580	T>I		No	ClinGen TOPMed gnomAD
CA400032441 rs1192525520	581	G>S		No	ClinGen TOPMed gnomAD
rs776894236 CA8623345	582	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA291227608 rs934344909	583	Y>C		No	ClinGen Ensembl
CA8623347 rs769897880	585	N>S		No	ClinGen ExAC TOPMed gnomAD
CA400032472 rs769897880	585	N>T		No	ClinGen ExAC TOPMed gnomAD
CA400032489 rs1394261071	587	T>I		No	ClinGen gnomAD
CA400032493 rs762965827	588	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8623349 rs762965827	588	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774343946 CA8623351	589	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8623352 rs761537421	589	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767399130 CA8623353	590	T>S		No	ClinGen ExAC gnomAD
CA8623354 rs554164072	591	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8623355 rs755788915	592	T>S		No	ClinGen ExAC gnomAD
rs1051212384 CA291227614	593	C>R		No	ClinGen TOPMed
rs1262760885 CA400032529	594	M>I		No	ClinGen gnomAD
CA400032526 rs1232549287	594	M>K		No	ClinGen gnomAD
CA8623357 rs753229335	595	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1322772006 CA400032540	596	S>N		No	ClinGen TOPMed
CA8623359 rs758947563	597	N>S		No	ClinGen ExAC gnomAD
CA400032569 rs747534508	601	C>S	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA400032591 rs1446324978	604	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8623364 rs746116209	604	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1156382155 CA400032606	606	K>N		No	ClinGen TOPMed gnomAD
rs1159713807 CA400032609	607	C>R		No	ClinGen TOPMed
CA400032614 rs1598698484	607	C>W		No	ClinGen Ensembl
CA400032620 rs1396050570	608	E>V		No	ClinGen gnomAD
CA291227622 rs1037550278	610	G>D		No	ClinGen Ensembl
rs1440990148 CA400032631	610	G>S		No	ClinGen gnomAD
rs749398361 CA8623367	613	V>A		No	ClinGen ExAC gnomAD
CA8623368 rs768771257	615	I>F		No	ClinGen ExAC gnomAD
rs368080215 CA8623369	615	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761812282 COSM3983517 CA8623370	617	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761812282 CA400032680	617	P>R		No	ClinGen ExAC TOPMed gnomAD
rs866062442 CA291227626	617	P>T		No	ClinGen TOPMed gnomAD
CA400032698 rs1598698520	620	Y>F		No	ClinGen Ensembl
rs773093107 CA8623372	623	T>I		No	ClinGen ExAC gnomAD
rs1272519968 CA626382191	624	C>*		No	ClinGen gnomAD
rs536587276 CA8623373	627	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs766920117 CA291227632	634	C>R		No	ClinGen TOPMed gnomAD
rs753524011 CA8623375	635	T>S		No	ClinGen ExAC gnomAD
TCGA novel	636	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA291227634 rs1020813926	637	K>E		No	ClinGen TOPMed
CA8623398 rs762316156	639	E>K		No	ClinGen ExAC TOPMed gnomAD
rs762316156 CA400032839	639	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA400032854 rs1415631913	641	V>M		No	ClinGen gnomAD
CA400032876 rs1312440573	644	K>E		No	ClinGen gnomAD
rs768083478 CA8623399	644	K>T		No	ClinGen ExAC TOPMed gnomAD
CA291227818 rs952912969	645	K>Q		No	ClinGen gnomAD
rs984227760 CA291227820	647	D>E		No	ClinGen Ensembl
rs1306827586 CA400032901	647	D>G		No	ClinGen gnomAD
CA400032897 rs1296258400	647	D>N		No	ClinGen gnomAD
rs1282245056 CA400032906	648	R>P		No	ClinGen gnomAD
rs1282245056 CA400032905	648	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8623401 rs139166528	648	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA291227822 rs542849573	650	A>D		No	ClinGen Ensembl
CA8623402 rs756486640	650	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8623403 rs780437458	652	H>R		No	ClinGen ExAC gnomAD
CA400032953 rs1598699194	656	T>P		No	ClinGen Ensembl
rs1405071909 CA400032963	657	C>S		No	ClinGen TOPMed
CA400032973 rs1418102941	658	N>K		No	ClinGen gnomAD
CA291227826 rs928021640	659	R>C		No	ClinGen gnomAD
CA291227824 rs928021640	659	R>G		No	ClinGen gnomAD
CA8623407 rs377302275	659	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8623408 RCV000502969 rs377302275	659	R>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA400032978 rs1286260266	660	Y>H		No	ClinGen TOPMed
CA400032993 rs151219882	662	R>G	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369443204 CA400032994	662	R>P		No	ClinGen ESP ExAC gnomAD
CA8623410 rs151219882	662	R>S	Glanzmann thrombasthenia (gt) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759129863 CA8623413	663	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1422884548 CA400032996	663	D>N		No	ClinGen TOPMed
rs775123693 CA8623415	664	E>A		No	ClinGen ExAC gnomAD
CA8623414 rs373150039	664	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA16609653 rs1361312808	665	I>T		No	ClinGen gnomAD
CA291227831 rs772684844	666	E>K		No	ClinGen TOPMed gnomAD
CA8623416 rs762512013	668	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8623418 rs773751165 COSM3958473	671	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs761206253 CA8623419	671	L>R		No	ClinGen ExAC gnomAD
CA291227834 rs79426495	672	K>E		No	ClinGen gnomAD
rs1178042414 CA400033072	673	D>N		No	ClinGen gnomAD
rs769568909 CA8623433	674	T>I		No	ClinGen ExAC gnomAD
rs991290295 CA291228126	674	T>S		No	ClinGen TOPMed gnomAD
rs939029518 CA291228128	675	G>D		No	ClinGen Ensembl
rs748912201 CA8623435	678	A>T		No	ClinGen ExAC
CA8623437 rs773804219	682	T>I		No	ClinGen ExAC TOPMed gnomAD
CA291228133 rs867459530	686	E>K		No	ClinGen TOPMed gnomAD
CA8623438 rs761100281	688	D>N		No	ClinGen ExAC gnomAD
CA8623440 rs534325095	691	V>I	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1293375452 CA400033205	692	R>T		No	ClinGen TOPMed gnomAD
TCGA novel	695	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8623441 rs760003979	696	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	698	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439956648 CA400033281	702	K>R		No	ClinGen TOPMed gnomAD
rs753006260 CA8623444	705	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1382540310 CA400033311	707	V>M		No	ClinGen TOPMed
rs1471737872 CA400033329 RCV000852067	710	E>K		No	ClinGen ClinVar dbSNP gnomAD
CA400033893 rs1167838887	712	E>G		No	ClinGen TOPMed gnomAD
CA8623447 rs751595288	712	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1167838887 CA400033894	712	E>V		No	ClinGen TOPMed gnomAD
rs1436328407 CA400033898	713	C>R		No	ClinGen gnomAD
rs538875423 CA8623463	715	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA400033921 rs1205019601	716	G>D		No	ClinGen TOPMed
CA400033934 rs1459543625	718	D>G		No	ClinGen TOPMed
rs1401040956 CA400033944	719	I>M		No	ClinGen gnomAD
rs1337204389 CA400033971	722	V>A		No	ClinGen gnomAD
rs1297484360 CA400033963	722	V>I		No	ClinGen gnomAD
TCGA novel	723	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762005536 CA8623468	724	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1567770862 CA400034023	727	M>K		No	ClinGen Ensembl
CA291228813 rs1044218723	729	A>S		No	ClinGen Ensembl
CA400034066 rs1263980212	730	I>F		No	ClinGen gnomAD
CA400034089 rs1222983127	732	L>F		No	ClinGen TOPMed
rs1187901432 CA400034107	733	I>T		No	ClinGen gnomAD
CA400034127 rs1316993508	735	L>F		No	ClinGen TOPMed
rs1246078600 CA400034128	735	L>P		No	ClinGen gnomAD
rs866605648 CA291228817	736	A>V		No	ClinGen gnomAD
CA8623477 rs778684385	737	A>V		No	ClinGen ExAC gnomAD
RCV000513182 CA400034183 rs1555573923	741	W>R		No	ClinGen ClinVar Ensembl dbSNP
RCV002533975 CA400034203 rs1598702813 RCV000852077	742	K>E		No	ClinGen ClinVar Ensembl dbSNP
rs1320551456 CA400034225	743	L>R		No	ClinGen gnomAD
CA8623478 rs747733241	743	L>V		No	ClinGen ExAC gnomAD
rs1598702827 RCV000852078 RCV002533976	744	L>missing		No	ClinVar dbSNP
rs398122374 CA400034232	744	L>H		No	ClinGen gnomAD
rs398122374 CA400034235	744	L>R		No	ClinGen gnomAD
CA400034272 rs1302417788	747	I>V		No	ClinGen gnomAD
CA291228823 rs398122372	749	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs142117362 CA8623481 COSM3421649	750	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA400034331 rs1208176997	751	K>N		No	ClinGen gnomAD
CA8623483 rs763475276	754	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753574028 CA291228828	755	K>T		No	ClinGen Ensembl
CA8623484 rs768884344	757	E>K		No	ClinGen ExAC TOPMed gnomAD
CA400034393 rs1431211616	760	R>C		No	ClinGen TOPMed gnomAD
CA8623485 rs774678642	760	R>H		No	ClinGen ExAC TOPMed gnomAD
CA400034391 rs1431211616	760	R>S		No	ClinGen TOPMed gnomAD
rs767661092 CA8623487	761	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs151185419 CA8623488	761	A>V		No	ClinGen ESP ExAC gnomAD
rs760612810 CA400034406	762	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760612810 CA8623489	762	R>T		No	ClinGen ExAC gnomAD
CA400034431 rs1174119222	764	K>N		No	ClinGen TOPMed gnomAD
rs1294580648 CA400034451	766	D>N		No	ClinGen gnomAD
CA8623506 rs773418194	768	A>D		No	ClinGen ExAC TOPMed gnomAD
CA400034655 rs1567771712	769	N>K		No	ClinGen Ensembl
CA8623507 rs760802957	769	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1339678443 CA400034657	770	N>H		No	ClinGen TOPMed
rs766423016 CA8623508	771	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1228960294 CA400034691	772	L>P		No	ClinGen gnomAD
CA400034702 rs1319869140	773	Y>C		No	ClinGen TOPMed gnomAD
rs751240067 CA8623515	776	A>D		No	ClinGen ExAC TOPMed gnomAD
rs758072004 CA8623514	776	A>S		No	ClinGen ExAC gnomAD
rs758072004 CA8623513	776	A>T		No	ClinGen ExAC gnomAD
rs751240067 CA291229226	776	A>V		No	ClinGen ExAC TOPMed gnomAD
rs780812894 CA8623517	777	T>M		No	ClinGen ExAC TOPMed gnomAD
rs755385732 CA8623519	778	S>F		No	ClinGen ExAC gnomAD
rs142369738 CA8623520	779	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8623521 rs748530525	781	T>I		No	ClinGen ExAC gnomAD
CA400034816 rs1391223157	782	N>S		No	ClinGen TOPMed gnomAD
CA8623522 rs367659742	784	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1264608713 CA400034859	785	Y>C		No	ClinGen TOPMed
rs747200949 CA8623524	786	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771030070 CA400034879	787	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8623525 rs771030070	787	G>V		No	ClinGen ExAC TOPMed gnomAD

2 associated diseases with P05106

[MIM: 619267]: Glanzmann thrombasthenia 2 (GT2)

A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. {ECO:0000269|PubMed:10233432, ECO:0000269|PubMed:11588040, ECO:0000269|PubMed:11897046, ECO:0000269|PubMed:12083483, ECO:0000269|PubMed:12353082, ECO:0000269|PubMed:1371279, ECO:0000269|PubMed:1438206, ECO:0000269|PubMed:15583747, ECO:0000269|PubMed:15634267, ECO:0000269|PubMed:15748237, ECO:0000269|PubMed:1602006, ECO:0000269|PubMed:20020534, ECO:0000269|PubMed:2392682, ECO:0000269|PubMed:29084015, ECO:0000269|PubMed:8781422, ECO:0000269|PubMed:9215749, ECO:0000269|PubMed:9376589, ECO:0000269|PubMed:9684783, ECO:0000269|PubMed:9790984}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 619271]: Bleeding disorder, platelet-type, 24 (BDPLT24)

An autosomal dominant disorder of platelet production characterized by congenital macrothrombocytopenia and platelet anisocytosis. Affected individuals may have no or only mildly increased bleeding tendency. {ECO:0000269|PubMed:18065693, ECO:0000269|PubMed:29380037}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. {ECO:0000269|PubMed:10233432, ECO:0000269|PubMed:11588040, ECO:0000269|PubMed:11897046, ECO:0000269|PubMed:12083483, ECO:0000269|PubMed:12353082, ECO:0000269|PubMed:1371279, ECO:0000269|PubMed:1438206, ECO:0000269|PubMed:15583747, ECO:0000269|PubMed:15634267, ECO:0000269|PubMed:15748237, ECO:0000269|PubMed:1602006, ECO:0000269|PubMed:20020534, ECO:0000269|PubMed:2392682, ECO:0000269|PubMed:29084015, ECO:0000269|PubMed:8781422, ECO:0000269|PubMed:9215749, ECO:0000269|PubMed:9376589, ECO:0000269|PubMed:9684783, ECO:0000269|PubMed:9790984}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant disorder of platelet production characterized by congenital macrothrombocytopenia and platelet anisocytosis. Affected individuals may have no or only mildly increased bleeding tendency. {ECO:0000269|PubMed:18065693, ECO:0000269|PubMed:29380037}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for P05106

Type	Name	Position	InterPro Accession
domain	Integrin beta subunit, VWA domain	38 - 461	IPR002369
domain	Integrin beta subunit, tail	634 - 718	IPR012896
domain	EGF-like domain, extracellular	593 - 624	IPR013111
domain	Integrin beta subunit, cytoplasmic domain	742 - 788	IPR014836
domain	PSI domain	30 - 76	IPR016201
domain	Integrin beta N-terminal	29 - 75	IPR033760
domain	Integrin beta, epidermal growth factor-like domain 1	463 - 492	IPR040622

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cell projection, lamellipodium membrane Cell junction, focal adhesion Postsynaptic cell membrane ; Single-pass type I membrane protein Synapse
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

29 GO annotations of cellular component

Name	Definition
alpha9-beta1 integrin-ADAM8 complex	A protein complex that consists of an alpha9-beta1 integrin complex bound to the transmembrane metallopeptidase ADAM8.
alphav-beta3 integrin-HMGB1 complex	A protein complex that consists of an alphav-beta3 integrin complex bound to high mobility group box 1 protein.
alphav-beta3 integrin-IGF-1-IGF1R complex	A protein complex that consists of an alphav-beta3 integrin complex bound to insulin-like growth factor-1 (IGF-1) and type I insulin-like growth factor receptor (IGF1R). IGF1R is a heterotetramer that consists of two alpha-subunits and two beta-subunits.
alphav-beta3 integrin-PKCalpha complex	A protein complex that consists of an alphav-beta3 integrin complex bound to protein kinase C alpha.
alphav-beta3 integrin-vitronectin complex	A protein complex that consists of an alphav-beta3 integrin complex bound to vitronectin.
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cell surface	The external part of the cell wall and/or plasma membrane.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
filopodium membrane	The portion of the plasma membrane surrounding a filopodium.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of synaptic membrane	The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integrin alphav-beta3 complex	An integrin complex that comprises one alphav subunit and one beta3 subunit.
integrin complex	A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands.
lamellipodium membrane	The portion of the plasma membrane surrounding a lamellipodium.
melanosome	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
microvillus membrane	The portion of the plasma membrane surrounding a microvillus.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
platelet alpha granule membrane	The lipid bilayer surrounding the platelet alpha granule.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

14 GO annotations of molecular function

Name	Definition
cell adhesion molecule binding	Binding to a cell adhesion molecule.
coreceptor activity	Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
extracellular matrix binding	Binding to a component of the extracellular matrix.
fibrinogen binding	Binding to fibrinogen, a highly soluble hexameric glycoprotein complex that is found in blood plasma and is converted to fibrin by thrombin in the coagulation cascade.
fibronectin binding	Binding to a fibronectin, a group of related adhesive glycoproteins of high molecular weight found on the surface of animal cells, connective tissue matrices, and in extracellular fluids.
identical protein binding	Binding to an identical protein or proteins.
integrin binding	Binding to an integrin.
platelet-derived growth factor receptor binding	Binding to a platelet-derived growth factor receptor.
protease binding	Binding to a protease or a peptidase.
protein disulfide isomerase activity	Catalysis of the rearrangement of both intrachain and interchain disulfide bonds in proteins.
protein kinase C binding	Binding to protein kinase C.
vascular endothelial growth factor receptor 2 binding	Binding to a vascular endothelial growth factor receptor 2.
virus receptor activity	Combining with a virus component and mediating entry of the virus into the cell.

65 GO annotations of biological process

Name	Definition
activation of protein kinase activity	Any process that initiates the activity of an inactive protein kinase.
angiogenesis involved in wound healing	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury.
apolipoprotein A-I-mediated signaling pathway	The series of molecular signals initiated by apolipoprotein A-I binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
apoptotic cell clearance	The recognition and removal of an apoptotic cell by a neighboring cell or by a phagocyte.
blood coagulation	The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell adhesion mediated by integrin	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell-matrix adhesion	The binding of a cell to the extracellular matrix via adhesion molecules.
cell-substrate adhesion	The attachment of a cell to the underlying substrate via adhesion molecules.
cell-substrate junction assembly	The aggregation, arrangement and bonding together of a set of components to form a junction between a cell and its substrate.
cellular response to insulin-like growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin-like growth factor stimulus.
cellular response to mechanical stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.
cellular response to platelet-derived growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet-derived growth factor stimulus.
cellular response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
embryo implantation	Attachment of the blastocyst to the uterine lining.
heterotypic cell-cell adhesion	The attachment of a cell to a cell of a different type via adhesion molecules.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
mesodermal cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a mesoderm cell.
negative chemotaxis	The directed movement of a motile cell or organism towards a lower concentration of a chemical.
negative regulation of cell death	Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.
negative regulation of lipid storage	Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.
negative regulation of lipid transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of lipoprotein metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids.
negative regulation of low-density lipoprotein receptor activity	Any process that stops, prevents or reduces the frequency, rate or extent of low-density lipoprotein receptor activity.
negative regulation of macrophage derived foam cell differentiation	Any process that decreases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions.
platelet activation	A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
platelet aggregation	The adhesion of one platelet to one or more other platelets via adhesion molecules.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of adenylate cyclase-inhibiting opioid receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of adenylate cyclase-inhibiting opioid receptor signaling pathway.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of bone resorption	Any process that activates or increases the frequency, rate or extent of bone resorption.
positive regulation of cell adhesion mediated by integrin	Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin.
positive regulation of cell-matrix adhesion	Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of fibroblast migration	Any process that increases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium.
positive regulation of fibroblast proliferation	Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of glomerular mesangial cell proliferation	Any process that increases the frequency, rate or extent of glomerular mesangial cell proliferation.
positive regulation of osteoblast proliferation	Any process that activates or increases the rate or extent of osteoblast proliferation.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of smooth muscle cell migration	Any process that activates, maintains or increases the frequency, rate or extent of smooth muscle cell migration.
positive regulation of smooth muscle cell proliferation	Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
positive regulation of substrate adhesion-dependent cell spreading	Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading.
positive regulation of T cell migration	Any process that activates or increases the frequency, rate or extent of T cell migration.
positive regulation of vascular endothelial growth factor receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of bone resorption	Any process that modulates the frequency, rate or extent of bone tissue loss (resorption).
regulation of extracellular matrix organization	Any process that modulates the frequency, rate or extent of extracellular matrix organization.
regulation of postsynaptic neurotransmitter receptor internalization	Any process that modulates the frequency, rate or extent of endocytosis of neurotransmitter receptor at the postsynapse.
regulation of protein localization	Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.
regulation of protein tyrosine kinase activity	Any process that modulates the rate, frequency, or extent of protein tyrosine kinase activity.
regulation of release of sequestered calcium ion into cytosol	Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria.
regulation of serotonin uptake	Any process that modulates the frequency, rate or extent of the directed movement of the monoamine neurotransmitter serotonin into a cell.
regulation of trophoblast cell migration	Any process that modulates the frequency, rate or extent of trophoblast cell migration.
response to activity	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an activity stimulus.
response to radiation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.
smooth muscle cell migration	The orderly movement of a smooth muscle cell from one site to another, often during the development of a multicellular organism.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.
tube development	The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts.
viral entry into host cell	The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MRARPRPRPL	WATVLALGAL	AGVGVGGPNI	CTTRGVSSCQ	QCLAVSPMCA	WCSDEALPLG
70	80	90	100	110	120
SPRCDLKENL	LKDNCAPESI	EFPVSEARVL	EDRPLSDKGS	GDSSQVTQVS	PQRIALRLRP
130	140	150	160	170	180
DDSKNFSIQV	RQVEDYPVDI	YYLMDLSYSM	KDDLWSIQNL	GTKLATQMRK	LTSNLRIGFG
190	200	210	220	230	240
AFVDKPVSPY	MYISPPEALE	NPCYDMKTTC	LPMFGYKHVL	TLTDQVTRFN	EEVKKQSVSR
250	260	270	280	290	300
NRDAPEGGFD	AIMQATVCDE	KIGWRNDASH	LLVFTTDAKT	HIALDGRLAG	IVQPNDGQCH
310	320	330	340	350	360
VGSDNHYSAS	TTMDYPSLGL	MTEKLSQKNI	NLIFAVTENV	VNLYQNYSEL	IPGTTVGVLS
370	380	390	400	410	420
MDSSNVLQLI	VDAYGKIRSK	VELEVRDLPE	ELSLSFNATC	LNNEVIPGLK	SCMGLKIGDT
430	440	450	460	470	480
VSFSIEAKVR	GCPQEKEKSF	TIKPVGFKDS	LIVQVTFDCD	CACQAQAEPN	SHRCNNGNGT
490	500	510	520	530	540
FECGVCRCGP	GWLGSQCECS	EEDYRPSQQD	ECSPREGQPV	CSQRGECLCG	QCVCHSSDFG
550	560	570	580	590	600
KITGKYCECD	DFSCVRYKGE	MCSGHGQCSC	GDCLCDSDWT	GYYCNCTTRT	DTCMSSNGLL
610	620	630	640	650	660
CSGRGKCECG	SCVCIQPGSY	GDTCEKCPTC	PDACTFKKEC	VECKKFDRGA	LHDENTCNRY
670	680	690	700	710	720
CRDEIESVKE	LKDTGKDAVN	CTYKNEDDCV	VRFQYYEDSS	GKSILYVVEE	PECPKGPDIL
730	740	750	760	770	780
VVLLSVMGAI	LLIGLAALLI	WKLLITIHDR	KEFAKFEEER	ARAKWDTANN	PLYKEATSTF

TNITYRGT