AiPD: Autoinhibited Protein Database

Q9Y5Y0

Gene name	FLVCR1 (FLVCR)
Protein name	Feline leukemia virus subgroup C receptor-related protein 1
Names	Feline leukemia virus subgroup C receptor, hFLVCR
Species	Homo sapiens (Human)
KEGG Pathway	hsa:28982
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

25-105 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

25-105 (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

1 structures for Q9Y5Y0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5Y0-F1	Predicted				AlphaFoldDB

487 variants for Q9Y5Y0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs899735028 RCV001207460 RCV000624418	1	M>I	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV003117431 RCV001376323 RCV000623287 rs1468358104	1	M>T	Posterior column ataxia-retinitis pigmentosa syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000622717 RCV001075472 RCV001207461 rs998058913 CA36896317	3	R>W	Retinal dystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA36896360 RCV002554670 RCV001073652 RCV001366519 rs916015252	9	G>R	Inborn genetic diseases Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs746296931 CA1385833 RCV001371054 RCV001096382	28	G>S	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1385837 RCV002525469 RCV001074737 rs532977695 RCV000440145	45	G>S	Inborn genetic diseases Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000992002 RCV000117087 VAR_050297 rs11120047 CA152893 RCV000349578	52	A>P	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767746826 RCV001335616 CA1385858	79	A>V	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001043475 rs760414651 RCV003160308 CA1385860	85	G>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_065158 rs267606820 RCV001046647 CA115240 RCV000001933	121	N>D	Posterior column ataxia-retinitis pigmentosa syndrome PCARP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1189460003 CA344795899 RCV002543043 RCV001295944	123	F>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen gnomAD ClinVar dbSNP
rs781057835 RCV000399654 CA1385887	129	S>G	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001075767 rs1216093309	180	G>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001075851 rs747064078 CA1385911 RCV001303824 RCV002555919	185	C>S	Inborn genetic diseases Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_065159 CA115242 rs267606821 RCV002513131 RCV002513132 RCV000001935	192	C>R	Posterior column ataxia-retinitis pigmentosa syndrome Inborn genetic diseases PCARP; also found in a patient with sensory neuropathy and pain insensitivity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000352893 CA1385917 RCV002522103 rs41296694 RCV001071872 RCV000516697	199	L>F	Posterior column ataxia-retinitis pigmentosa syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000398713 CA10608967 rs886045926	204	M>R	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001075362 rs1415055566	235	S>Y	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA115241 VAR_065160 RCV000001934 RCV001851962 rs267606819	241	A>T	Posterior column ataxia-retinitis pigmentosa syndrome PCARP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1664140651 RCV001261546	244	G>S	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs773064101 RCV001093109 RCV001095734	252	G>missing	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001098129 rs1664320715	260	V>A	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinVar dbSNP
rs886045927 CA10609772 RCV000358532	261	P>L	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000755164 rs547679833 CA344789926	262	N>T	Short rib-polydactyly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1385970 rs766483912 RCV001299156 RCV001098130	278	F>L	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001098131 CA1385972 rs755239032	279	Y>N	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1294845921 RCV002554921 RCV001098132 CA344791552	296	F>V	Posterior column ataxia-retinitis pigmentosa syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs139175550 CA1386003 RCV000518204 RCV001098133	313	D>N	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000516759 RCV001642907 CA1386005 rs41297444 RCV000266137	318	E>K	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000323515 RCV001850523 CA1386008 rs142749772	321	Y>C	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001199817 rs1558112968 CA344791936 RCV000761696	324	S>*	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1386019 RCV001095735 RCV001760068 rs754655924	340	T>I	Posterior column ataxia-retinitis pigmentosa syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001099906 RCV002527604 CA1386068 RCV000522010 rs149834738	386	I>M	Posterior column ataxia-retinitis pigmentosa syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1386097 RCV001170035 RCV000994239 rs775587493	412	G>A	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001199816 RCV000994240 rs1572027164	440	T>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1665115556 RCV001099907	465	L>R	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001302709 rs756375276 RCV002539505 CA1386153	486	S>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_065161 rs1558121050 RCV000023754 CA344793881	493	G>R	Posterior column ataxia-retinitis pigmentosa syndrome PCARP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1665131014 RCV001333005	506	I>L	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000578557 rs538343832 RCV000986511 CA1386181	516	R>*	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000787835 rs748989557	519	N>missing	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
CA1386223 rs144226457 RCV001227799 RCV000516409 RCV002525033	540	Q>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA152895 RCV000992006 RCV000330210 VAR_050298 rs3207090 RCV000117088	544	T>M	Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000387027 CA1386229 rs149887215 RCV002519488 RCV000422945 RCV001074738	553	S>A	Posterior column ataxia-retinitis pigmentosa syndrome Inborn genetic diseases Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA344794947 rs1240643558	4	P>R		No	ClinGen gnomAD
RCV001288605 rs1029247819 CA36896347	6	D>E		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1178034025 CA344794966	6	D>G		No	ClinGen TOPMed gnomAD
rs1178034025 CA344794968	6	D>V		No	ClinGen TOPMed gnomAD
CA36896354 rs762737335	7	E>D		No	ClinGen Ensembl
CA344794985 rs1349714967	8	E>*		No	ClinGen TOPMed
rs1664091368 RCV001055438	9	G>E		No	ClinVar dbSNP
rs916015252 CA344794996	9	G>W		No	ClinGen TOPMed gnomAD
rs576457204 CA36896376	10	A>P		No	ClinGen 1000Genomes
rs1367649842 CA344795035	13	A>E		No	ClinGen gnomAD
CA344795047 rs1333273243	14	P>L		No	ClinGen gnomAD
rs111734301 CA1385826 RCV001036907	14	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs111734301 CA344795040	14	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1445964969 CA344795052	15	G>R		No	ClinGen gnomAD
CA344795064 rs1295906760	16	H>R		No	ClinGen gnomAD
rs543847452 CA1385827 RCV000992008	17	P>A		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1228515012 CA344795075	17	P>R		No	ClinGen TOPMed gnomAD
rs1177486939 CA344795080	18	L>V		No	ClinGen TOPMed gnomAD
CA344795089 rs1334605952	19	A>P		No	ClinGen TOPMed gnomAD
rs1458552179 CA344795112	21	G>E		No	ClinGen gnomAD
rs768206151 CA1385828	21	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1204473345 CA344795124	22	Y>*		No	ClinGen gnomAD
CA344795131 rs1231194356	23	L>H		No	ClinGen gnomAD
rs1231194356 CA344795133	23	L>P		No	ClinGen gnomAD
RCV000992009 rs562153726 CA1385831	24	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1385830 rs747866785	24	P>S		No	ClinGen ExAC gnomAD
CA36896436 rs937538361	25	L>F		No	ClinGen TOPMed gnomAD
CA344795193 rs1448205241	30	P>L		No	ClinGen gnomAD
CA36896450 rs529365517	30	P>S		No	ClinGen 1000Genomes
rs541543586 CA344795194	31	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs541543586 CA1385834	31	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1572001423 CA344795247	36	V>E		No	ClinGen Ensembl
rs766163322 CA36896512	36	V>M		No	ClinGen Ensembl
CA344795250 rs1319057848	37	E>K		No	ClinGen gnomAD
CA344795259 RCV001300007 rs1181313339	38	L>V		No	ClinGen ClinVar dbSNP gnomAD
rs1214471218 CA344795271	39	Q>H		No	ClinGen TOPMed gnomAD
rs1438804408 CA344795264	39	Q>K		No	ClinGen TOPMed
rs1314013434 CA344795285	41	G>E		No	ClinGen gnomAD
CA344795280 rs1271549655	41	G>R		No	ClinGen TOPMed gnomAD
CA344795283 rs1314013434	41	G>V		No	ClinGen gnomAD
CA344795300 rs1210839684	44	A>T		No	ClinGen gnomAD
CA344795312 rs1390983083	46	T>A		No	ClinGen TOPMed
rs1572001487 CA344795316	46	T>I		No	ClinGen Ensembl
CA344795313 rs1390983083	46	T>S		No	ClinGen TOPMed
rs1196146594 CA344795324	47	F>L		No	ClinGen gnomAD
RCV001288604 rs762104775	48	P>L		No	ClinVar dbSNP
rs762104775 CA344795327	48	P>Q		No	ClinGen ExAC gnomAD
rs762104775 CA1385839	48	P>R		No	ClinGen ExAC gnomAD
CA1385838 rs774367270	48	P>S		No	ClinGen ExAC
CA1385841 rs750213144	49	V>E		No	ClinGen ExAC
CA344795336 rs1462675301	50	N>H		No	ClinGen gnomAD
rs888507883 CA344795350	52	A>D		No	ClinGen TOPMed gnomAD
rs888507883 CA344795352	52	A>G		No	ClinGen TOPMed gnomAD
rs754401455	52	A>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs11120047 CA344795349	52	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344795348 rs11120047	52	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA36896548 rs888507883	52	A>V		No	ClinGen TOPMed gnomAD
CA36896555 rs900254792	53	P>L		No	ClinGen TOPMed
CA344795362 rs1298480049	54	R>L		No	ClinGen gnomAD
rs766279883 CA1385844	54	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs941459032 CA36896588	55	D>E		No	ClinGen gnomAD
rs1187595131 CA344795390	56	S>R		No	ClinGen TOPMed
CA36896589 rs1039497994	57	L>F		No	ClinGen TOPMed gnomAD
RCV001234443 CA344795405 rs1039497994	57	L>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA344795421 rs1220349437	59	A>S		No	ClinGen gnomAD
rs1664105472 RCV001321735	60	A>I		No	ClinVar dbSNP
rs569621196 RCV001303628	60	A>S		No	ClinVar dbSNP
rs569621196 CA1385845	60	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1385846 rs530387275	60	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548563981 CA344795445	61	S>L		No	ClinGen 1000Genomes gnomAD
CA36896630 rs548563981	61	S>W		No	ClinGen 1000Genomes gnomAD
CA1385848 rs747698371	62	G>R		No	ClinGen ExAC gnomAD
CA1385849 rs758060038	63	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1337637090 CA344795492	66	G>W		No	ClinGen TOPMed
rs777359018 CA1385850	67	P>R		No	ClinGen ExAC gnomAD
RCV001070696 rs1664107730	68	Q>E		No	ClinVar dbSNP
CA1385851 rs746206964	68	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA344795531 rs1441042180	69	T>P		No	ClinGen TOPMed gnomAD
CA344795543 rs1158868330	70	P>A		No	ClinGen gnomAD
rs1334811356 CA344795546	70	P>L		No	ClinGen TOPMed
CA344795554 rs1445650143	71	L>M		No	ClinGen TOPMed
COSM1338688 rs1009263236 CA36896710	72	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1316634688 CA344795571	73	P>T		No	ClinGen gnomAD
rs770301963 CA1385852	74	E>Q		No	ClinGen ExAC gnomAD
CA344795604 rs1358541290	75	E>G		No	ClinGen TOPMed
rs776096784 CA1385853	75	E>K		No	ClinGen ExAC gnomAD
rs1022392164 CA344795615	76	E>A		No	ClinGen TOPMed gnomAD
rs749813026 TCGA novel CA1385854	76	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC
rs1022392164 CA36896714	76	E>V		No	ClinGen TOPMed gnomAD
CA1385855 rs768557113	77	T>I		No	ClinGen ExAC gnomAD
CA1385856 rs774476541	78	Q>E		No	ClinGen ExAC gnomAD
CA344795637 rs1347948846	78	Q>R		No	ClinGen gnomAD
rs767746826 CA344795643	79	A>D		No	ClinGen ExAC gnomAD
CA344795642 rs761864944	79	A>S		No	ClinGen ExAC gnomAD
rs761864944 CA1385857	79	A>T		No	ClinGen ExAC gnomAD
rs1222300314 CA344795649	80	R>L		No	ClinGen gnomAD
rs1468243008 CA344795663	83	P>H		No	ClinGen gnomAD
rs1468243008 CA344795665	83	P>L		No	ClinGen gnomAD
rs1362744902 CA344795662	83	P>S		No	ClinGen gnomAD
rs760414651 CA36896765	85	G>D		No	ClinGen ExAC TOPMed gnomAD
rs371845105 CA36896785	86	A>T		No	ClinGen ESP TOPMed gnomAD
CA36896787 rs1034483766	86	A>V		No	ClinGen Ensembl
CA344795683 rs1325812623	87	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1449654766 CA344795711	91	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	94	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA36896813 rs764197717	95	S>G		No	ClinGen Ensembl
CA36896816 rs993079513	95	S>N		No	ClinGen Ensembl
CA344795743 rs1286212185	96	S>N		No	ClinGen TOPMed gnomAD
rs1286212185 CA344795741	96	S>T		No	ClinGen TOPMed gnomAD
rs752251054 CA1385866	97	P>L		No	ClinGen ExAC TOPMed gnomAD
CA344795755 rs1459006129	98	L>P		No	ClinGen gnomAD
CA344795752 rs777463003	98	L>V		No	ClinGen ExAC gnomAD
rs34319487 CA36896847	99	P>R		No	ClinGen Ensembl
CA1385870 rs756477406	100	L>F		No	ClinGen ExAC gnomAD
rs780575414 CA1385871	101	T>P		No	ClinGen ExAC gnomAD
CA1385872 rs749724915	102	A>T		No	ClinGen ExAC gnomAD
CA344795775 rs1474684922	102	A>V		No	ClinGen gnomAD
CA1385873 RCV001051913 rs769200783	103	L>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs779328198 CA1385874	104	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	104	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748235276 CA1385875	105	P>L		No	ClinGen ExAC gnomAD
rs772065005 CA1385876	106	R>P		No	ClinGen ExAC TOPMed gnomAD
CA36896896 rs772065005	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773385018 CA344795795	107	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773385018 CA1385877	107	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1450209898 CA344795807	109	V>M		No	ClinGen TOPMed
CA36896951 rs909875697	112	L>Q		No	ClinGen TOPMed
rs776397732 CA1385880	113	I>N		No	ClinGen ExAC gnomAD
rs1336867173 CA344795846	115	S>N		No	ClinGen gnomAD
rs759320245 CA1385881	115	S>R		No	ClinGen ExAC gnomAD
rs1372051991 CA344795868	118	S>L		No	ClinGen TOPMed
CA344795874 rs1255821668	120	V>I		No	ClinGen gnomAD
RCV001301479 CA36897026 rs933848598	121	N>S		No	ClinGen ClinVar dbSNP gnomAD
rs1460927385 CA344795891	122	A>G		No	ClinGen gnomAD
RCV000518442 rs1553261879 CA344795886	122	A>T		No	ClinGen ClinVar Ensembl dbSNP
CA344795897 rs1184103872	123	F>C		No	ClinGen TOPMed
CA344795905 rs1376169334	124	Q>L		No	ClinGen TOPMed gnomAD
CA344795904 rs1376169334	124	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1434320705 CA344795908	125	W>R		No	ClinGen gnomAD
rs756953485 CA1385886	128	Y>*		No	ClinGen ExAC gnomAD
RCV000711699 rs1558104917 CA344795954	131	I>V		No	ClinGen ClinVar Ensembl dbSNP
CA1385888 rs144646325 RCV001205633	133	N>T		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs1235364528 CA344795977	134	V>D		No	ClinGen gnomAD
rs367576230 CA1385889	134	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1385890 rs779426165	139	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs779426165 CA1385891	139	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA1385892 rs772126483	141	V>F		No	ClinGen ExAC gnomAD
rs772126483 CA344796022	141	V>I		No	ClinGen ExAC gnomAD
rs747150230 CA1385894	145	H>N		No	ClinGen ExAC
rs1322403738 CA344796244	145	H>Q		No	ClinGen TOPMed
CA344796328 rs1172748960	150	S>P		No	ClinGen TOPMed gnomAD
rs1206028239 CA344796346	151	M>L		No	ClinGen gnomAD
CA1385896 rs776883863	152	V>E		No	ClinGen ExAC gnomAD
CA344796372 rs776883863	152	V>G		No	ClinGen ExAC gnomAD
CA36897117 rs892356474	154	M>I		No	ClinGen Ensembl
CA1385897 rs759356598	155	L>Q		No	ClinGen ExAC gnomAD
rs1664128173 RCV001207223	159	P>R		No	ClinVar dbSNP
CA344796459 rs1410232275	160	L>V		No	ClinGen TOPMed
CA1385900 rs762809105	162	F>C		No	ClinGen ExAC TOPMed gnomAD
CA344796495 rs1171994607	162	F>L		No	ClinGen gnomAD
rs369434267 RCV000711700 CA36897176	163	P>L		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs1558105024 CA344796534	164	A>S		No	ClinGen Ensembl
CA344796559 rs1382534415	166	W>*		No	ClinGen gnomAD
CA344796617 rs1572002407	169	D>G		No	ClinGen Ensembl
rs1456075726 CA344796609	169	D>H		No	ClinGen TOPMed
CA1385903 rs761448723	170	T>S		No	ClinGen ExAC gnomAD
rs767295580 CA1385904	171	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572002461 CA344796728	176	T>P		No	ClinGen Ensembl
rs1260483394 CA344796749	177	A>T		No	ClinGen gnomAD
CA344796779 rs1572002487	178	L>P		No	ClinGen Ensembl
CA344796795 rs1572002499	179	L>P		No	ClinGen Ensembl
rs1254247911 CA344796815	180	G>D		No	ClinGen gnomAD
rs1572002521 CA344796852	184	N>H		No	ClinGen Ensembl
CA1385909 rs758893792	184	N>S		No	ClinGen ExAC TOPMed gnomAD
rs758893792 CA1385910	184	N>T		No	ClinGen ExAC TOPMed gnomAD
rs747064078 CA344796874	185	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1419841789 CA344796918	187	G>A		No	ClinGen gnomAD
TCGA novel	187	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1385914 rs140233942 RCV001046760	188	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1385915 rs145380701	193	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142384149 CA36897294	193	G>V		No	ClinGen ESP
rs1274821663 CA344797037	194	S>C		No	ClinGen TOPMed gnomAD
CA36897296 rs994975681	195	V>M		No	ClinGen TOPMed
rs751566382 CA36897297	197	Q>*		No	ClinGen Ensembl
rs1664133784 RCV001343426	198	H>R		No	ClinVar dbSNP
rs1373492232 CA344797111	199	L>H		No	ClinGen gnomAD
CA1385918 rs41296694	199	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344797134 rs1327273630	201	W>*		No	ClinGen TOPMed
TCGA novel	203	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA36897361 rs1034894935	204	M>I		No	ClinGen TOPMed
rs767165849 CA1385920	204	M>V		No	ClinGen ExAC gnomAD
rs1160553570 CA344797240	208	C>S		No	ClinGen TOPMed
rs1572002696 CA344797302	213	A>S		No	ClinGen Ensembl
CA344797358 rs1274206314	217	I>L		No	ClinGen gnomAD
CA1385923 rs752733357	219	G>C		No	ClinGen ExAC gnomAD
CA36897369 rs752733357	219	G>S		No	ClinGen ExAC gnomAD
rs1175800230 CA344797387	220	L>F		No	ClinGen TOPMed
rs1376226578 CA344797383	220	L>S		No	ClinGen TOPMed
CA1385924 COSM244559 rs753000469 VAR_077884	221	P>S	prostate probable disease-associated variant found in a patient with sensory neuropathy and pain insensitivity [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
rs1176827187 CA344797406	222	S>P		No	ClinGen gnomAD
rs752085746 CA1385927	223	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1464474465 CA344797422	223	R>L		No	ClinGen TOPMed
CA1385930 rs746015229	227	V>A		No	ClinGen ExAC gnomAD
rs1209261354 CA344797481	228	W>*		No	ClinGen TOPMed
RCV001212200 rs1664138454	231	P>H		No	ClinVar dbSNP
rs1440913542 CA344797507	231	P>T		No	ClinGen gnomAD
CA344797554 rs1380808880	234	V>G		No	ClinGen gnomAD
rs958844090 CA36897422	234	V>L		No	ClinGen gnomAD
CA344797568 rs1415055566	235	S>C		No	ClinGen gnomAD
rs756282048 CA1385932	239	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1572002826 CA344797629	240	T>P		No	ClinGen Ensembl
CA344797635 rs1227298177	240	T>S		No	ClinGen gnomAD
TCGA novel	243	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749068823 CA1385934	244	G>V		No	ClinGen ExAC gnomAD
rs867244763 CA36897474	245	N>S		No	ClinGen gnomAD
RCV000760774 CA1385958 COSM1738583 rs746482522	248	G>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1223944084 CA344789831	248	G>E		No	ClinGen TOPMed
rs1572007466 CA344789849	251	V>D		No	ClinGen Ensembl
CA344789846 rs1275985949	251	V>I		No	ClinGen TOPMed
CA344789855 rs1326524572	252	G>D		No	ClinGen TOPMed
rs1396328917 CA344789871	254	L>F		No	ClinGen gnomAD
CA344789876 rs1172608460	255	L>P		No	ClinGen TOPMed gnomAD
CA36870727 rs960237307	256	P>R		No	ClinGen TOPMed gnomAD
CA1385963 rs769490462	256	P>S		No	ClinGen ExAC gnomAD
CA1385966 rs762203417	259	L>*		No	ClinGen ExAC gnomAD
rs1051165077 CA36870745	260	V>I		No	ClinGen TOPMed
rs891219301 CA36870752	261	P>S		No	ClinGen TOPMed
rs547679833 RCV000711701 CA1385967	262	N>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1430740630 CA344789935	263	T>A		No	ClinGen gnomAD
CA344789953 rs1302774778	264	Q>H		No	ClinGen gnomAD
CA344789961 rs1321966712	265	N>S		No	ClinGen TOPMed gnomAD
rs1025750397 CA36870768	266	D>E		No	ClinGen gnomAD
CA344789983 rs1558107949 RCV000711702	267	T>A		No	ClinGen ClinVar Ensembl dbSNP
rs565290486 CA36870773	268	N>D		No	ClinGen 1000Genomes
rs1225709279 CA344789994	268	N>S		No	ClinGen gnomAD
CA344790004 rs1284670716	269	L>V		No	ClinGen gnomAD
CA1385969 rs760628858	274	I>N		No	ClinGen ExAC gnomAD
RCV001315454 rs1664322770	274	I>V		No	ClinVar dbSNP
rs779345090 CA1385973	279	Y>C		No	ClinGen ExAC gnomAD
CA1385974 rs752511404	280	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1085308007 RCV000489041 CA344790126	280	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA344790137 rs1470930786	281	T>A		No	ClinGen gnomAD
CA1385976 rs777525949 RCV000522232	283	A>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1385977 rs747001184	283	A>V		No	ClinGen ExAC gnomAD
CA36870875 rs79510627	285	A>S		No	ClinGen Ensembl
rs770284491 CA1385978	285	A>V		No	ClinGen ExAC
CA344790187 rs1400553414	286	T>I		No	ClinGen gnomAD
rs1572007688 CA344790194	287	L>H		No	ClinGen Ensembl
CA344790231 rs1397243516	290	I>T		No	ClinGen gnomAD
rs1442329216 CA344790248	292	T>S		No	ClinGen gnomAD
CA344790262 rs1572007719	293	A>E		No	ClinGen Ensembl
RCV001215200 CA1385980 rs745446625	293	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs138069386 CA36879097	295	A>G		No	ClinGen ESP TOPMed
CA344791546 rs138069386	295	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs757211117 CA1385995	297	K>E		No	ClinGen ExAC gnomAD
rs781143437 CA1385996	297	K>R		No	ClinGen ExAC gnomAD
rs745357020 CA1385997	299	K>E		No	ClinGen ExAC TOPMed gnomAD
rs755640420 CA1385999	299	K>N		No	ClinGen ExAC
CA344791615 rs1439959048	300	P>S		No	ClinGen TOPMed
CA1386000 rs144013956	301	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1386001 RCV001244538 rs748973198	303	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1360250179 CA344791685	306	Q>E		No	ClinGen TOPMed
rs1558112875 CA344791691	306	Q>R		No	ClinGen Ensembl
CA344791743 rs1317261007	310	A>T		No	ClinGen TOPMed
CA344791751 rs1435669626	310	A>V		No	ClinGen gnomAD
CA1386002 rs772267199	311	L>I		No	ClinGen ExAC gnomAD
CA344791754 rs772267199	311	L>V		No	ClinGen ExAC gnomAD
CA344791782 rs139175550	313	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344791795 rs1475778985	314	S>R		No	ClinGen gnomAD
rs572881055 CA1386004 RCV001207807	315	P>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1367173028 CA344791831	316	P>L		No	ClinGen gnomAD
CA344791835 rs1476675229 COSM3803820	317	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1386007 rs759642191	319	Y>*		No	ClinGen ExAC gnomAD
rs777328745 CA1386006	319	Y>D		No	ClinGen ExAC gnomAD
rs775511449 CA36879270	325	I>L		No	ClinGen ExAC gnomAD
RCV001307440 rs1664640355	325	I>R		No	ClinVar dbSNP
CA1386009 rs775511449	325	I>V		No	ClinGen ExAC gnomAD
CA1386010 rs763254153	327	N>S		No	ClinGen ExAC gnomAD
RCV000711705 rs762546149 CA1386011	329	F>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs751334952 CA1386012	331	N>D		No	ClinGen ExAC gnomAD
RCV001055604 CA1386013 rs751334952	331	N>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs767390439 CA1386014	331	N>S		No	ClinGen ExAC gnomAD
CA344792073 rs1280676091	335	V>I		No	ClinGen TOPMed gnomAD
rs1558113016 RCV000711697 CA344792124	339	I>F		No	ClinGen ClinVar Ensembl dbSNP
CA1386018 rs748806605	340	T>S		No	ClinGen ExAC TOPMed gnomAD
RCV001288601 COSM903617 rs200151282 CA1386020	341	Y>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA36879347 rs574654668	342	G>S		No	ClinGen Ensembl
rs974592236 CA36888908	342	G>V		No	ClinGen TOPMed gnomAD
CA1386033 rs774455543	343	I>T		No	ClinGen ExAC gnomAD
rs1453975333 CA344792177	344	M>I		No	ClinGen gnomAD
rs1187176008 CA344792172	344	M>V		No	ClinGen gnomAD
rs767302510 CA1386035	346	G>A		No	ClinGen ExAC gnomAD
CA344792190 rs767302510	346	G>V		No	ClinGen ExAC gnomAD
CA344792227 rs1454175112	352	S>P		No	ClinGen gnomAD
CA1386036 rs750300828	353	T>A		No	ClinGen ExAC gnomAD
rs372728084 CA1386037	353	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA344792254 rs1369672835	356	N>I		No	ClinGen gnomAD
rs778581914 RCV001323773 CA1386041 CA344792271 TCGA novel	358	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA ExAC TOPMed dbSNP gnomAD
rs754495724 COSM1162863 CA1386040	358	M>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA344792273 rs1319091871	359	I>V		No	ClinGen gnomAD
CA344792283 rs1166150514	360	L>S		No	ClinGen TOPMed
rs757631822 CA1386043	361	T>R		No	ClinGen ExAC TOPMed gnomAD
RCV000517279 CA1386044 RCV001054506 rs199842709	362	Y>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA344792324 rs1253176118 RCV001201553	365	G>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001315077 CA344792331 rs1286318947	366	E>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA36890695 RCV000518471 RCV001236757 rs949984167	366	E>V		No	ClinGen ClinVar TOPMed dbSNP
RCV001243687 rs760802982	367	E>missing		No	ClinVar dbSNP
TCGA novel	367	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344792341 rs1217914773	367	E>G		No	ClinGen Ensembl
CA344792338 rs1558118881	367	E>Q		No	ClinGen Ensembl
CA344792352 rs1232439245	369	N>D		No	ClinGen TOPMed
rs1249305535 CA344792363	370	A>G		No	ClinGen gnomAD
CA1386061 rs758114033	373	I>T		No	ClinGen ExAC gnomAD
CA344792388 rs777639476	374	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1386062 rs777639476	374	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	374	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1171845254 CA344792399	376	T>M		No	ClinGen gnomAD
CA344792406 rs1224119565	378	V>L		No	ClinGen gnomAD
rs749760416 CA1386066	379	V>A		No	ClinGen ExAC
rs1461147119 CA344792416	380	A>T		No	ClinGen gnomAD
CA36890755 rs892478726	382	M>V		No	ClinGen TOPMed
TCGA novel	383	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572024974 CA344792440	383	V>G		No	ClinGen Ensembl
CA1386067 rs768722289	385	S>C		No	ClinGen ExAC gnomAD
rs1339625407 CA344792455	386	I>V		No	ClinGen TOPMed
rs1401481224 CA344792466	388	C>R		No	ClinGen TOPMed
CA344792476 rs1416951642	389	G>D		No	ClinGen gnomAD
CA344792481 rs1558118957 RCV000760817	390	L>*		No	ClinGen ClinVar Ensembl dbSNP
rs1373084351 CA344792487	391	W>R		No	ClinGen TOPMed
CA344792499 rs1301824643	392	L>P		No	ClinGen TOPMed
rs748293103 CA1386069	393	D>G		No	ClinGen ExAC gnomAD
rs772250440 CA1386070	394	Y>C		No	ClinGen ExAC gnomAD
rs1379932306 CA344792519	395	T>I		No	ClinGen TOPMed
CA344792515 rs1466978860	395	T>S		No	ClinGen TOPMed
rs201436911 CA1386073	399	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA344792613 rs1315527384	400	Q>*		No	ClinGen TOPMed
RCV001303673 rs770704141 CA1386093	400	Q>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA344792619 rs1186083866	401	T>A		No	ClinGen TOPMed gnomAD
rs1254356497 CA344792640	404	I>R		No	ClinGen TOPMed gnomAD
CA344792639 rs1254356497	404	I>T		No	ClinGen TOPMed gnomAD
CA344792644 rs1454427065	405	V>I		No	ClinGen gnomAD
rs745745992 CA1386095	406	Y>C		No	ClinGen ExAC gnomAD
rs745745992 CA1386096	406	Y>F		No	ClinGen ExAC gnomAD
rs1234110807 CA344792673	409	S>Y		No	ClinGen Ensembl
CA344792693 rs775587493	412	G>V		No	ClinGen ExAC TOPMed gnomAD
rs558398621 CA1386099 RCV001211406	424	Y>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761355986 CA1386101	425	I>V		No	ClinGen ExAC gnomAD
CA1386103 rs767266325	426	I>F		No	ClinGen ExAC gnomAD
CA1386104 rs767266325	426	I>V		No	ClinGen ExAC gnomAD
rs755419588 CA1386105	427	I>V		No	ClinGen ExAC TOPMed gnomAD
rs560058131 CA1386106 RCV001202098	428	V>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1439624290 CA344792905	430	V>I		No	ClinGen TOPMed
TCGA novel	432	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	433	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA36893170 rs151017281	435	L>R		No	ClinGen ESP TOPMed
RCV001268665 rs1665113651	439	M>I		No	ClinVar dbSNP
rs755912131 CA1386133	442	Y>S		No	ClinGen ExAC gnomAD
rs1274346968 CA344793182	444	P>L		No	ClinGen gnomAD
rs1451305340 CA344793177	444	P>S		No	ClinGen TOPMed
rs1383330558 CA344793197	445	L>F		No	ClinGen TOPMed
rs1182706333 CA344793209	446	G>D		No	ClinGen TOPMed
CA344793208 rs1182706333	446	G>V		No	ClinGen TOPMed
TCGA novel	452	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344793329 rs1257763337	454	T>I		No	ClinGen TOPMed
rs1340950032 CA344793324	454	T>S		No	ClinGen gnomAD
CA344793358 rs1274790146	456	P>R		No	ClinGen TOPMed
rs1480023769 CA344793353	456	P>S		No	ClinGen TOPMed
rs751415272 RCV000523680	460	G>missing		No	ClinVar dbSNP
CA344793408 rs1281893922	460	G>R		No	ClinGen gnomAD
rs749159963 CA344793421	461	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1386136 rs749159963	461	T>S		No	ClinGen ExAC TOPMed gnomAD
rs768682438 CA1386137	462	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	462	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344793453 rs1273394834	464	G>S		No	ClinGen gnomAD
rs1245906577 CA344793489	467	N>H		No	ClinGen TOPMed
RCV001288603 rs1203409620 CA344793522	469	S>C		No	ClinGen ClinVar dbSNP gnomAD
RCV001051104 rs1665115810	470	A>V		No	ClinVar dbSNP
rs373914966 CA36893710	471	Q>*		No	ClinGen ESP TOPMed
rs1391075754	471	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA36893729 rs914693797	471	Q>R		No	ClinGen TOPMed
CA344793655 rs1390322584	473	F>Y		No	ClinGen gnomAD
CA1386151 RCV001326993 rs376842630	475	I>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	476	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA36894414 rs150151318	478	T>P		No	ClinGen ESP TOPMed
CA344793762 rs1254614879	480	A>S		No	ClinGen gnomAD
CA344793788 rs1166383590	482	G>R		No	ClinGen gnomAD
CA344793842 rs1411433587	487	D>H		No	ClinGen TOPMed
CA1386154 rs780491898	488	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs753674716 CA1386155	489	G>C		No	ClinGen ExAC gnomAD
rs1447864071 CA344793858	489	G>D		No	ClinGen gnomAD
rs1175804371 CA344793867	491	K>Q		No	ClinGen gnomAD
rs142779202 CA1386156	492	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001056889 rs1665130400	494	N>K		No	ClinVar dbSNP
rs1170603083 CA344793902	496	F>L		No	ClinGen gnomAD
CA344793911 rs1387000407	497	L>F		No	ClinGen gnomAD
rs757795927 CA1386159	499	V>I		No	ClinGen ExAC gnomAD
RCV001060211 CA1386161 rs574905795	501	M>I		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA1386160 rs777314603	501	M>T		No	ClinGen ExAC gnomAD
TCGA novel	502	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1386162 rs369869680	502	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs934193989 CA36894540	507	L>V		No	ClinGen gnomAD
CA36899974 rs112913904	512	K>E		No	ClinGen TOPMed gnomAD
CA344794244 rs1238178103	514	D>E		No	ClinGen TOPMed
rs1026164030 CA36900036	514	D>H		No	ClinGen TOPMed
CA344794241 rs1488264687	514	D>V		No	ClinGen gnomAD
rs746506424 CA1386180	515	L>M		No	ClinGen ExAC gnomAD
rs538343832 CA344794250	516	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780752648 CA1386182	516	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1553266350 CA1386183	517	R>I		No	ClinGen Ensembl
rs777543198 RCV000992003	518	H>missing		No	ClinVar dbSNP
CA36900079 rs1035777724	518	H>R		No	ClinGen TOPMed
CA344794270 rs745546439	519	N>I		No	ClinGen ExAC gnomAD
CA1386186 rs745546439	519	N>S		No	ClinGen ExAC gnomAD
rs1572031494 RCV000992004	520	I>*		No	ClinVar dbSNP
rs1665297200 RCV001348523	520	I>T		No	ClinVar dbSNP
CA1386189 rs748530604	522	I>T		No	ClinGen ExAC gnomAD
CA1386188 rs774750073	522	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1299594976 CA344794296	523	G>A		No	ClinGen TOPMed gnomAD
CA344794295 rs1299594976	523	G>E		No	ClinGen TOPMed gnomAD
RCV001320497 CA1386190 rs372330163	523	G>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001204894 rs1426169425	525	T>missing		No	ClinVar dbSNP
CA344794372 rs1272175213	533	P>T		No	ClinGen gnomAD
rs377365978 CA36900343	536	S>N		No	ClinGen Ensembl
CA344794397 rs1313807284	536	S>R		No	ClinGen gnomAD
rs369248276 CA1386220	537	P>S		No	ClinGen ESP ExAC gnomAD
CA1386221 rs759600280	538	T>K		No	ClinGen ExAC
rs886044676 RCV000352144	540	Q>missing		No	ClinVar dbSNP
rs1236761521 CA344794418	540	Q>E		No	ClinGen TOPMed gnomAD
rs1201647207 CA344794427	541	E>A		No	ClinGen TOPMed
CA344794429 rs1201647207	541	E>G		No	ClinGen TOPMed
rs141575859 CA344794433	542	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1386224 RCV000711698 rs141575859	542	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1448467874 CA344794438	543	K>E		No	ClinGen gnomAD
CA1386227 rs767512883	545	V>A		No	ClinGen ExAC gnomAD
rs1416459011 CA344794452	545	V>F		No	ClinGen gnomAD
TCGA novel	546	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344794459 rs1359058037	546	M>T		No	ClinGen gnomAD
CA344794470 rs779051064	547	L>F		No	ClinGen Ensembl
rs766024598 RCV000992007	548	S>missing		No	ClinVar dbSNP
rs899054275 CA36900414	549	K>E		No	ClinGen TOPMed gnomAD
rs1465006601 CA344794480	549	K>R		No	ClinGen gnomAD
rs1043532787 CA36900419	554	A>T		No	ClinGen Ensembl

No associated diseases with Q9Y5Y0

5 regional properties for Q9Y5Y0

Type	Name	Position	InterPro Accession
domain	FCH domain	16 - 105	IPR001060
domain	SH3 domain	466 - 527	IPR001452-1
domain	SH3 domain	544 - 607	IPR001452-2
domain	F-BAR domain	12 - 280	IPR031160
domain	FCHSD, SH3 domain 1	468 - 524	IPR035460

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Multi-pass membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a 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.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
heme transmembrane transporter activity	Enables the transfer of heme from one side of a membrane to the other.

15 GO annotations of biological process

Name	Definition
blood vessel development	The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.
cellular iron ion homeostasis	Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell.
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
embryonic skeletal system morphogenesis	The process in which the anatomical structures of the skeleton are generated and organized during the embryonic phase.
erythrocyte differentiation	The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.
erythrocyte maturation	A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state.
head morphogenesis	The process in which the anatomical structures of the head are generated and organized. The head is the anterior-most division of the body.
heme biosynthetic process	The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors.
heme export	The directed movement of heme out of a cell or organelle.
heme transport	The directed movement of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
mitochondrial transport	Transport of substances into, out of or within a mitochondrion.
multicellular organism growth	The increase in size or mass of an entire multicellular organism, as opposed to cell growth.
regulation of organ growth	Any process that modulates the frequency, rate or extent of growth of an organ of an organism.
spleen development	The process whose specific outcome is the progression of the spleen over time, from its formation to the mature structure. The spleen is a large vascular lymphatic organ composed of white and red pulp, involved both in hemopoietic and immune system functions.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UPI3	FLVCR2	Feline leukemia virus subgroup C receptor-related protein 2	Homo sapiens (Human)	PR
Q91X85	Flvcr2	Feline leukemia virus subgroup C receptor-related protein 2	Mus musculus (Mouse)	PR
P60815	Flvcr2	Feline leukemia virus subgroup C receptor-related protein 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MARPDDEEGA	AVAPGHPLAK	GYLPLPRGAP	VGKESVELQN	GPKAGTFPVN	GAPRDSLAAA
70	80	90	100	110	120
SGVLGGPQTP	LAPEEETQAR	LLPAGAGAET	PGAESSPLPL	TALSPRRFVV	LLIFSLYSLV
130	140	150	160	170	180
NAFQWIQYSI	ISNVFEGFYG	VTLLHIDWLS	MVYMLAYVPL	IFPATWLLDT	RGLRLTALLG
190	200	210	220	230	240
SGLNCLGAWI	KCGSVQQHLF	WVTMLGQCLC	SVAQVFILGL	PSRIASVWFG	PKEVSTACAT
250	260	270	280	290	300
AVLGNQLGTA	VGFLLPPVLV	PNTQNDTNLL	ACNISTMFYG	TSAVATLLFI	LTAIAFKEKP
310	320	330	340	350	360
RYPPSQAQAA	LQDSPPEEYS	YKKSIRNLFK	NIPFVLLLIT	YGIMTGAFYS	VSTLLNQMIL
370	380	390	400	410	420
TYYEGEEVNA	GRIGLTLVVA	GMVGSILCGL	WLDYTKTYKQ	TTLIVYILSF	IGMVIFTFTL
430	440	450	460	470	480
DLRYIIIVFV	TGGVLGFFMT	GYLPLGFEFA	VEITYPESEG	TSSGLLNASA	QIFGILFTLA
490	500	510	520	530	540
QGKLTSDYGP	KAGNIFLCVW	MFIGIILTAL	IKSDLRRHNI	NIGITNVDVK	AIPADSPTDQ
550
EPKTVMLSKQ	SESAI