AiPD: Autoinhibited Protein Database

Q96KG9

Gene name	SCYL1 (CVAK90, GKLP, NTKL, TAPK, TEIF, TRAP)
Protein name	N-terminal kinase-like protein
Names	Coated vesicle-associated kinase of 90 kDa, SCY1-like protein 1, Telomerase regulation-associated protein, Telomerase transcriptional element-interacting factor, Teratoma-associated tyrosine kinase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57410
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

499-808 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

499-808 (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 Q96KG9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96KG9-F1	Predicted				AlphaFoldDB

709 variants for Q96KG9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000627807 rs1554967681 CA381260435 RCV000853082	57	Q>*	CALFAN syndrome Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA381260631 RCV000627806 rs1554967761	86	E>*	CALFAN syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000627808 rs942522644 CA223996997 RCV000853083	105	A>V	CALFAN syndrome Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000482470 RCV001267150 rs755131489	133	N>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001329770 rs1320473430 CA381261064	151	R>*	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000853313 CA6099524 rs535912271	176	K>*	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
RCV001336499 RCV002547357 CA6099601 rs141670485	268	M>I	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs143168314 RCV002548366 RCV002505476 RCV000972290 CA6099638	293	F>V	Inborn genetic diseases Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000203252 rs864309664	313	V>missing	Spinocerebellar ataxia type 21 [ClinVar]	Yes	ClinVar dbSNP
rs1855366408 RCV001265794	347	Q>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001266765 rs773812714	449	T>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1554969894 RCV000661920 CA381263212	471	A>V	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000627805 CA381263253 RCV000853081 rs1554969925	478	D>G	CALFAN syndrome Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV003169521 RCV000985231 rs374754187 CA6099834	503	C>R	Inborn genetic diseases Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000203253 rs864309665	504	A>missing	Spinocerebellar ataxia type 21 [ClinVar]	Yes	ClinVar dbSNP
rs1590740858 RCV000853084	512	C>missing	Spinocerebellar ataxia type 21 [ClinVar]	Yes	ClinVar dbSNP
rs864309667 CA278772 RCV000203251	546	Q>*	Spinocerebellar ataxia type 21 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000627804 rs1554970375 RCV000853080 CA381264233	628	Q>*	CALFAN syndrome Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002547282 rs200518123 CA6099976 RCV000963281	645	D>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000623276 rs759830598	689	P>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA6100100 RCV001336498 rs767319743	756	G>A	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1242476470 CA381260093	5	A>S		No	ClinGen gnomAD
rs778487235 CA6099395	6	R>W		No	ClinGen ExAC TOPMed gnomAD
CA381260106 rs1468006936	7	D>V		No	ClinGen TOPMed
CA381260112 rs1353313734	8	P>L		No	ClinGen gnomAD
rs748526048 CA6099396	10	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381260133 rs1185063014	12	F>I		No	ClinGen gnomAD
CA381260153 rs1242532999	14	F>L		No	ClinGen gnomAD
CA223996186 rs867463453	15	E>*		No	ClinGen gnomAD
CA381260155 rs867463453	15	E>K		No	ClinGen gnomAD
rs758829284 CA381260162	16	L>I		No	ClinGen ExAC gnomAD
CA6099397 rs758829284	16	L>V		No	ClinGen ExAC gnomAD
rs1452366899 CA381260174	18	P>S		No	ClinGen TOPMed gnomAD
rs1213974283 CA381260199	21	P>L		No	ClinGen Ensembl
TCGA novel	24	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413186367 CA381260227	26	P>S		No	ClinGen gnomAD
CA6099398 rs566948339	27	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747601793 CA6099399	28	P>L		No	ClinGen ExAC TOPMed gnomAD
CA223996276 rs916631483	30	A>G		No	ClinGen Ensembl
rs535917264 CA6099400	33	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA381260280 rs1307659425	35	R>C		No	ClinGen gnomAD
rs1376284310 CA381260284	35	R>P		No	ClinGen gnomAD
CA381260313 rs1232845683	38	A>T		No	ClinGen gnomAD
CA6099412 rs758988026	39	T>I		No	ClinGen ExAC gnomAD
TCGA novel	41	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6099413 rs764723141	41	S>T		No	ClinGen ExAC TOPMed gnomAD
CA6099414 rs752404870	42	P>S		No	ClinGen ExAC gnomAD
CA381260342 rs974182929	43	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs974182929 CA223996592	43	V>M		No	ClinGen gnomAD
rs909308574 CA223996597	45	I>V		No	ClinGen TOPMed
rs1341978436 CA381260368	47	V>I		No	ClinGen TOPMed gnomAD
CA6099416 rs758025574	48	Y>C		No	ClinGen ExAC gnomAD
CA381260374 rs1209964021	48	Y>H		No	ClinGen gnomAD
CA6099417 rs778242705	49	D>H		No	ClinGen ExAC gnomAD
rs1590719352 CA381260390	50	V>A		No	ClinGen Ensembl
CA6099419 rs757808392	50	V>M		No	ClinGen ExAC gnomAD
CA381260406 rs1373070562	53	G>S		No	ClinGen TOPMed gnomAD
CA6099421 rs745942710	54	A>V		No	ClinGen ExAC gnomAD
rs1415442099 CA381260421	55	E>G		No	ClinGen TOPMed
rs1388692076 CA381260417	55	E>K		No	ClinGen gnomAD
rs1404344726 CA381260438	57	Q>L		No	ClinGen gnomAD
CA6099422 rs770070746	58	T>A		No	ClinGen ExAC gnomAD
rs11548539 CA223996646	59	Q>L		No	ClinGen ExAC gnomAD
rs11548539 CA6099424	59	Q>R		No	ClinGen ExAC gnomAD
CA6099425 rs371540545	61	A>T		No	ClinGen ESP ExAC gnomAD
rs1245472113 CA381260471	63	A>T		No	ClinGen gnomAD
TCGA novel	66	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381260500 rs1267093507	67	R>C		No	ClinGen gnomAD
rs1267093507 CA381260501	67	R>G		No	ClinGen gnomAD
rs773092111 CA6099426	67	R>H		No	ClinGen ExAC gnomAD
CA381260499 rs1267093507	67	R>S		No	ClinGen gnomAD
TCGA novel	69	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6099428 rs770914771	72	R>G		No	ClinGen ExAC gnomAD
rs776484564 CA6099429	72	R>Q		No	ClinGen ExAC gnomAD
rs770914771 CA381260531	72	R>W		No	ClinGen ExAC gnomAD
CA223996683 rs759455952	75	N>D		No	ClinGen ExAC TOPMed gnomAD
rs759455952 CA6099430	75	N>H		No	ClinGen ExAC TOPMed gnomAD
rs972059346 CA381260550	75	N>I		No	ClinGen TOPMed gnomAD
rs972059346 CA223996685	75	N>S		No	ClinGen TOPMed gnomAD
rs764774581 CA6099431	78	A>G		No	ClinGen ExAC gnomAD
CA381260578 rs1367162810	80	I>L		No	ClinGen gnomAD
CA6099432 rs752169740	83	L>V		No	ClinGen ExAC gnomAD
rs1359896541 CA381260627	85	T>R		No	ClinGen gnomAD
CA381260650 rs1304358485	88	C>*		No	ClinGen gnomAD
rs775001054 CA381260649	88	C>F		No	ClinGen ExAC gnomAD
CA6099451 rs775001054	88	C>Y		No	ClinGen ExAC gnomAD
rs762308510 CA6099452	89	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	90	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768047260 CA6099456	92	V>A		No	ClinGen ExAC gnomAD
rs761516991 CA381260671	92	V>L		No	ClinGen ExAC gnomAD
CA6099455 rs761516991	92	V>M		No	ClinGen ExAC gnomAD
CA223996966 rs75886653	96	V>G		No	ClinGen Ensembl
CA381260695 rs1565067150	96	V>M		No	ClinGen Ensembl
CA6099457 rs750789628 COSM930406	98	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA223996989 rs986729376	100	G>E		No	ClinGen Ensembl
CA381260728 rs1447736331	101	I>R		No	ClinGen TOPMed
rs766945284 CA381260739	103	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6099459 rs766945284	103	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6099460 rs753980779	105	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381260759 rs1176687635	106	R>I		No	ClinGen gnomAD
rs369392939 CA6099462	107	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369392939 CA381260762	107	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6099464 rs55662663	108	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370992903 CA6099465	110	G>D		No	ClinGen ESP ExAC gnomAD
rs377002535 CA223997022	110	G>S		No	ClinGen ESP TOPMed gnomAD
CA381260789 rs1565067301	111	G>V		No	ClinGen Ensembl
CA6099467 rs769734147	114	E>K		No	ClinGen ExAC gnomAD
CA381260818 rs1439462293	116	E>A		No	ClinGen gnomAD
CA381260824 rs1297082212	117	I>L		No	ClinGen gnomAD
rs947549056 CA223997051	117	I>N		No	ClinGen Ensembl
CA6099468 rs775336730	118	S>F		No	ClinGen ExAC gnomAD
rs78243061 CA6099473	125	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6099472 rs78243061 RCV000901681	125	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1354449410 CA381260897	126	K>R		No	ClinGen TOPMed
CA223997181 rs769691895	129	S>G		No	ClinGen Ensembl
rs1328840773 CA381260943	133	N>S		No	ClinGen TOPMed
rs771867385 CA381260947	134	D>H		No	ClinGen ExAC TOPMed gnomAD
rs771867385 CA6099493	134	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs367777193 CA6099495	136	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418855073 CA381260980	138	I>T		No	ClinGen TOPMed
rs771481228 CA6099496	140	N>D		No	ClinGen ExAC TOPMed gnomAD
CA6099497 rs551199259	141	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6099498 rs759991138	142	V>A		No	ClinGen ExAC gnomAD
rs765725743 CA6099499	143	C>R		No	ClinGen ExAC TOPMed gnomAD
rs762951225 CA6099501	146	A>T		No	ClinGen ExAC gnomAD
TCGA novel	146	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6099503 rs751833875	147	V>M		No	ClinGen ExAC gnomAD
rs1219098038 CA381261053	149	V>A		No	ClinGen gnomAD
CA6099505 rs371499287	149	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381261050 rs371499287	149	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA381261057 rs1282350048	150	D>N		No	ClinGen TOPMed gnomAD
CA381261063 rs1320473430	151	R>G		No	ClinGen TOPMed gnomAD
CA6099506 rs753631575	151	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6099507 rs753631575	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778854073 CA6099508	152	A>P		No	ClinGen ExAC gnomAD
rs778854073 CA381261066	152	A>S		No	ClinGen ExAC gnomAD
rs571188091 CA6099510 RCV000895800	154	E>D		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	155	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6099511 rs777408861	157	L>P		No	ClinGen ExAC gnomAD
rs1384106579	159	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1370594528 CA381261112	159	G>S		No	ClinGen TOPMed
CA6099513 rs770665941	163	M>V		No	ClinGen ExAC gnomAD
rs887226483 CA223997332	164	Y>H		No	ClinGen TOPMed gnomAD
COSM1746472 rs776880516 COSM1746473 CA6099514	165	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770204666 CA6099516	167	Q>*		No	ClinGen ExAC gnomAD
CA381261169 rs1324226029	167	Q>L		No	ClinGen TOPMed
rs763433840 CA6099518	168	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6099521 rs762057890	170	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372370132 CA223997364	171	G>W		No	ClinGen ESP TOPMed gnomAD
TCGA novel	173	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997519760 CA223997374	173	P>S		No	ClinGen Ensembl
CA6099522 rs573532447	175	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6099523 rs753591753	175	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753591753 CA381261215	175	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381261213 rs573532447	175	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381261239 rs752740301	179	P>H		No	ClinGen ExAC TOPMed gnomAD
CA6099526 rs752740301	179	P>R		No	ClinGen ExAC TOPMed gnomAD
rs201564248 CA6099528	180	E>K		No	ClinGen ExAC gnomAD
CA381261258 rs1172759064	182	E>V		No	ClinGen gnomAD
CA381261266 rs1463415404	183	Q>P		No	ClinGen TOPMed gnomAD
COSM1188301 rs367912230 CA223997468	187	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA381261296 rs367912230	187	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	188	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6099530 rs756872062	189	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6099531 rs780829775	190	A>G		No	ClinGen ExAC gnomAD
rs1401656669 CA381261312	190	A>S		No	ClinGen gnomAD
CA223997469 rs917662110	192	S>N		No	ClinGen TOPMed
CA6099532 rs745499930	193	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1234283461 CA381261341	194	G>D		No	ClinGen gnomAD
TCGA novel	194	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200014873 CA6099533	195	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1590721254 CA381261353	196	V>G		No	ClinGen Ensembl
CA381261376 rs1458138115	199	E>D		No	ClinGen gnomAD
CA381261371 rs1262490357	199	E>K		No	ClinGen gnomAD
CA381261411 rs1430617569	202	S>L		No	ClinGen gnomAD
CA6099557 rs774776195	205	M>T		No	ClinGen ExAC gnomAD
CA6099558 rs536228379	207	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555914644 CA6099559	207	R>H	Variant assessed as Somatic; 4.69e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA381261464 rs773144330	210	C>F		No	ClinGen ExAC gnomAD
rs773144330 CA6099560	210	C>Y		No	ClinGen ExAC gnomAD
rs200408408 CA6099561	212	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6099562 rs766462147	212	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	214	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381261497 rs1362414749	215	V>F		No	ClinGen gnomAD
rs779429043 CA6099563	217	N>S		No	ClinGen ExAC TOPMed gnomAD
rs552468853 CA223998766	219	P>S		No	ClinGen Ensembl
CA381261534 rs1325002140	221	P>A		No	ClinGen TOPMed
rs751602298 CA381261538	222	R>G		No	ClinGen ExAC TOPMed gnomAD
rs751602298 CA381261539	222	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6099567 rs757117609	227	R>C		No	ClinGen ExAC TOPMed gnomAD
rs371041571 CA6099568	227	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6099569 rs371041571	227	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6099570 rs755816716	228	N>S		No	ClinGen ExAC gnomAD
CA381261576 rs576008769	229	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	229	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6099571 rs576008769	229	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6099572 rs754208663	230	G>E		No	ClinGen ExAC gnomAD
CA6099573 rs755403733	231	K>E		No	ClinGen ExAC gnomAD
CA381261610 rs1483762144	232	I>M		No	ClinGen gnomAD
RCV000909434 rs201043872 CA6099585	232	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6099586 rs761837721	233	P>T		No	ClinGen ExAC gnomAD
CA6099587 rs374654060	235	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6099588 rs749966732	241	C>S		No	ClinGen ExAC TOPMed gnomAD
rs980910152 CA223998904	246	A>G		No	ClinGen Ensembl
TCGA novel	250	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381261721 rs1349726565	250	V>M		No	ClinGen gnomAD
rs760039895 CA6099589	251	R>C		No	ClinGen ExAC TOPMed gnomAD
rs558695770 CA6099590	251	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381261740 rs1395012839	253	N>T		No	ClinGen TOPMed
CA223998915 rs973053915	254	P>L		No	ClinGen TOPMed gnomAD
rs1479239585 CA381261755	255	A>G		No	ClinGen TOPMed
rs578183894 CA6099591	256	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6099592 rs370357462	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6099593 rs779290763	257	F>L		No	ClinGen ExAC gnomAD
rs752965602 CA6099594	259	Q>E		No	ClinGen ExAC gnomAD
CA6099596 rs531866682	262	R>G		No	ClinGen ExAC TOPMed gnomAD
CA223998944 rs148421552	262	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6099597 rs148421552	262	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531866682 CA381261795	262	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1484649724 CA381261797	263	A>T		No	ClinGen TOPMed
rs1277907116 CA381261802	263	A>V		No	ClinGen TOPMed
rs1346911421 CA381261815	266	G>S		No	ClinGen TOPMed
CA6099600 rs746131020	268	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6099599 rs373815325	268	M>V		No	ClinGen ESP ExAC gnomAD
rs1479675080 CA381261840	269	S>N		No	ClinGen TOPMed gnomAD
rs774215524 CA6099602	270	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs761461911 COSM1509474 COSM1509473 CA6099603	271	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM930407 CA6099604 COSM1585919 rs201160219	271	R>H	urinary_tract endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA223998990 rs201160219	271	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761461911 CA381261850	271	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6099605 rs773093373	272	F>S		No	ClinGen ExAC gnomAD
rs1469205286 CA381261864	273	V>A		No	ClinGen gnomAD
CA381261868 rs1416486462	274	E>Q		No	ClinGen TOPMed
CA6099606 rs760594349	275	T>P		No	ClinGen ExAC gnomAD
rs562713747 CA381261883	276	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6099607 rs562713747	276	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381261908 rs1167714541	280	E>V		No	ClinGen TOPMed
rs750538381 CA6099635	285	K>I		No	ClinGen ExAC gnomAD
rs915308957 CA224001116	286	E>Q		No	ClinGen TOPMed
rs369729088 CA6099637	289	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445849047 CA381261997	291	Q>E		No	ClinGen gnomAD
CA381262017 rs1364556467	293	F>L		No	ClinGen gnomAD
rs201108435 CA6099642	299	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs200461019 CA6099643	299	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373266891 CA6099645	300	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373266891 CA6099644	300	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	302	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243859614 CA381262081	303	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs939624841 CA224001135	305	P>L		No	ClinGen Ensembl
CA381262097 rs1565072289	305	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	306	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381262102 rs1314713271	306	E>K		No	ClinGen gnomAD
CA381262109 rs1351636093	307	D>H		No	ClinGen gnomAD
CA381262113 rs1224180288	307	D>V		No	ClinGen gnomAD
TCGA novel	308	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381262116 rs1367132995	308	F>L		No	ClinGen TOPMed
rs377174877 CA6099647	308	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6099649 rs200624740	310	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370521030 CA6099648	310	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6099650 rs762204730	311	H>Y		No	ClinGen ExAC gnomAD
rs1462311122 CA381262142	312	K>E		No	ClinGen gnomAD
CA381262168 rs1367570405	316	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA224001157 rs941492275	319	T>I		No	ClinGen TOPMed
CA6099653 rs367743932	320	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338032066 CA381262202	322	E>K		No	ClinGen gnomAD
rs1450597603 CA381262218	324	G>S		No	ClinGen TOPMed gnomAD
CA6099656 rs755179371	325	N>S		No	ClinGen ExAC gnomAD
CA6099657 rs371177254	326	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs998272140 CA224001179	327	G>E		No	ClinGen TOPMed
CA6099658 rs752909696	327	G>R		No	ClinGen ExAC gnomAD
rs1263751189 CA381262249	329	V>A		No	ClinGen gnomAD
CA6099660 rs201604417 COSM270115	329	V>I	Variant assessed as Somatic; 0.0002356 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs745845011 CA6099661	330	V>A		No	ClinGen ExAC gnomAD
rs779449173 CA6099663	331	L>I		No	ClinGen ExAC gnomAD
rs201989796 CA381262264	332	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6099665 rs201989796	332	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1472509092 CA381262274	334	L>F		No	ClinGen gnomAD
CA381262285 rs1177566506	335	F>L		No	ClinGen gnomAD
rs761546507 CA6099667	336	K>N		No	ClinGen ExAC
CA224001389 rs750179257	337	V>L		No	ClinGen ExAC gnomAD
CA6099678 rs750179257	337	V>M		No	ClinGen ExAC gnomAD
rs779972377 CA6099680	339	K>R		No	ClinGen ExAC gnomAD
CA6099682 rs372432278	341	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778547958 CA6099683	342	S>R		No	ClinGen ExAC gnomAD
rs771810546 CA6099685	343	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1229043079 CA381262346	344	E>K		No	ClinGen TOPMed gnomAD
rs747342684 CA6099688	349	K>M		No	ClinGen ExAC gnomAD
rs771347567 CA6099689	349	K>N		No	ClinGen ExAC gnomAD
rs1489978449 CA381262400	351	I>V		No	ClinGen gnomAD
TCGA novel	352	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6099691 rs759935935	353	V>M		No	ClinGen ExAC gnomAD
rs1191599435 CA381262433	356	K>R		No	ClinGen gnomAD
rs1360286465 CA381262452	358	F>L		No	ClinGen TOPMed
rs775506650 CA6099693	359	S>P		No	ClinGen ExAC TOPMed gnomAD
CA381262454 rs775506650	359	S>T		No	ClinGen ExAC TOPMed gnomAD
CA381262471 rs1445239525	362	D>Y		No	ClinGen gnomAD
CA6099695 rs374680296	363	R>Q		No	ClinGen ESP ExAC gnomAD
rs371744623 CA6099694	363	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA381262492 rs1451634124	365	M>T		No	ClinGen TOPMed
CA381262489 rs1169390051	365	M>V		No	ClinGen TOPMed
CA6099698 rs766077898	366	R>C	Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6099699 rs764376000	366	R>H		No	ClinGen ExAC TOPMed gnomAD
CA224001407 COSM252801 rs912702321	368	R>C	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
RCV000895312 rs187644314 COSM1581631 CA6099701 COSM1581632	368	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs187644314 CA6099702	368	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1316795319 CA381262513	369	L>F		No	ClinGen gnomAD
CA381262524 rs1228679845	371	Q>*		No	ClinGen TOPMed
rs771374379 CA6099706	371	Q>H		No	ClinGen ExAC gnomAD
rs1343915464 CA381262526	371	Q>R		No	ClinGen TOPMed
rs776829093 CA381262535	372	Q>H		No	ClinGen ExAC gnomAD
CA6099721 rs373503438	373	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs758050693 CA6099722	379	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs758050693 CA381262598	379	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs202127335 CA224001718	380	L>F		No	ClinGen TOPMed gnomAD
rs556283654 CA6099723	381	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1478772159 CA381262614	382	E>K		No	ClinGen gnomAD
CA6099725 rs376766269	384	T>P		No	ClinGen ESP ExAC
TCGA novel	385	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	388	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470274290 CA381262663	389	I>F		No	ClinGen gnomAD
rs200614035 CA381262682	392	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6099727 rs200614035	392	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200614035 CA6099726	392	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747911305 CA6099729	393	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6099732 rs774267148	394	V>A		No	ClinGen ExAC TOPMed gnomAD
COSM1605013 CA6099731 COSM1605014 rs768775062	394	V>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA224001754 rs932903552	395	H>D		No	ClinGen TOPMed gnomAD
rs1418439202 CA381262728	399	D>V		No	ClinGen TOPMed
rs752729887 CA6099738	401	N>K		No	ClinGen ExAC TOPMed gnomAD
rs765121062 CA6099737	401	N>T		No	ClinGen ExAC gnomAD
CA6099739 rs762950864	402	P>S		No	ClinGen ExAC gnomAD
rs1249634250 CA381262753	403	A>V		No	ClinGen TOPMed
CA381262758 rs1590734398	404	I>T		No	ClinGen Ensembl
CA224001785 rs768088214	405	R>Q		No	ClinGen TOPMed gnomAD
rs538419986 CA224001784	405	R>W		No	ClinGen 1000Genomes gnomAD
COSM1224995 CA6099740 rs763690516	408	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA381262784 rs763690516	408	T>R		No	ClinGen ExAC gnomAD
CA381262810 rs1445427151	411	S>T		No	ClinGen TOPMed
CA224003775 rs199655994	411	S>Y		No	ClinGen 1000Genomes
CA6099764 rs755734478	412	M>L		No	ClinGen ExAC TOPMed gnomAD
CA381262815 rs755734478	412	M>V		No	ClinGen ExAC TOPMed gnomAD
rs754157202 CA6099766	417	P>S		No	ClinGen ExAC
CA381262851 rs1291075842	418	K>E		No	ClinGen gnomAD
CA381262871 rs1227740483	421	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6099768 rs779221847	422	A>D		No	ClinGen ExAC gnomAD
CA381262888 rs1226777059	423	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs957135838 CA224003808	425	N>S		No	ClinGen TOPMed gnomAD
COSM1224996 CA224003819 rs570043048	429	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes
rs1463213205 CA381262929	429	M>T		No	ClinGen gnomAD
rs370246020 CA381262955	432	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771227874 CA381262965	434	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381262964 rs771227874	434	R>P		No	ClinGen ExAC TOPMed gnomAD
rs771227874 CA6099773	434	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1207232282 CA381262963	434	R>W		No	ClinGen TOPMed gnomAD
rs867264692 CA224003828	436	Q>*		No	ClinGen gnomAD
TCGA novel	436	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	437	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381262990 rs1401587273	438	K>N		No	ClinGen gnomAD
CA381262989 rs1413530972	438	K>R		No	ClinGen gnomAD
rs1161983958 CA381262992	439	D>N		No	ClinGen gnomAD
rs1565076448 CA381263013	441	Q>L		No	ClinGen Ensembl
rs768489530 CA6099776	443	P>L		No	ClinGen ExAC gnomAD
rs774210078 CA6099777	444	I>V		No	ClinGen ExAC gnomAD
rs770464210 CA6099778	445	R>C		No	ClinGen ExAC TOPMed
rs377689356 CA6099779	445	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377689356 CA6099780	445	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377689356 CA6099781	445	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs754206470 CA6099784	447	N>T		No	ClinGen ExAC TOPMed
rs538642382 CA6099787	449	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA381263080 rs1263253228	453	G>S		No	ClinGen gnomAD
CA381263101 rs1443574517	456	G>S		No	ClinGen TOPMed gnomAD
CA6099790 rs778020511	457	S>F		No	ClinGen ExAC gnomAD
CA6099791 rs747026975	458	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1565076587 CA381263124	459	L>R		No	ClinGen Ensembl
rs1565077237 CA381263158	463	T>A		No	ClinGen Ensembl
CA6099814 rs778596138	463	T>I		No	ClinGen ExAC gnomAD
CA381263160 rs1565077237	463	T>P		No	ClinGen Ensembl
CA381263165 rs1286450999	464	R>K		No	ClinGen TOPMed gnomAD
rs1037596595 CA224004476	465	H>L		No	ClinGen Ensembl
CA381263176 rs1434118537	465	H>Q		No	ClinGen TOPMed
CA381263200 rs1339400003	469	T>I		No	ClinGen TOPMed gnomAD
rs1339400003 CA381263198	469	T>N		No	ClinGen TOPMed gnomAD
rs950264973 CA224004477	469	T>P		No	ClinGen Ensembl
CA381263229 rs983051027	474	R>*		No	ClinGen gnomAD
CA224004494 rs983051027	474	R>G		No	ClinGen gnomAD
CA6099815 rs747920059	474	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381263244 rs1223646466	477	R>G		No	ClinGen gnomAD
rs772002757 CA6099816	477	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1554969925 CA381263252	478	D>A		No	ClinGen Ensembl
rs993369239 CA224004536	478	D>Y		No	ClinGen TOPMed
CA6099819 VAR_041364 rs55977709	479	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA224004554 rs954810108	481	A>T		No	ClinGen gnomAD
rs1216607637 CA381263274	481	A>V		No	ClinGen TOPMed
rs766470635 CA6099823	482	P>L		No	ClinGen ExAC TOPMed
CA381263285 rs1293871845	483	S>F		No	ClinGen gnomAD
rs976805310 CA224004585	484	R>Q		No	ClinGen TOPMed gnomAD
COSM2149011 rs1399523797 CA381263287 COSM2149010	484	R>W	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA381263294 rs1590740617	485	V>G		No	ClinGen Ensembl
rs371321661 CA6099825	485	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381263298 rs1322750590	486	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752159918 CA6099827	490	G>S		No	ClinGen ExAC gnomAD
rs1465432935 CA381263345	494	T>A		No	ClinGen TOPMed
VAR_041365	495	H>Y	a metastatic melanoma sample; somatic mutation [UniProt]	No	UniProt
rs767734317 CA381263364 CA381263363	496	N>K		No	ClinGen ExAC
rs1340993840 CA381263361	496	N>S		No	ClinGen gnomAD
rs78069132 CA224004617	500	M>L		No	ClinGen ExAC gnomAD
CA6099832 rs78069132	500	M>V		No	ClinGen ExAC gnomAD
CA381263401 rs1263027441	502	D>N		No	ClinGen gnomAD
rs374754187 CA381263408	503	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs864309665	504	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA381263417 rs1247693189	504	A>T		No	ClinGen gnomAD
CA224004653 rs985893277	504	A>V		No	ClinGen TOPMed gnomAD
rs758252252 CA6099835	505	Q>*		No	ClinGen ExAC gnomAD
CA6099836 rs746440945	505	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1456190199 CA381263442	508	L>M		No	ClinGen gnomAD
rs1162663444 CA381263451	509	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1389255232 CA381263458	511	L>I		No	ClinGen TOPMed gnomAD
CA381263465 rs947345785	512	C>G		No	ClinGen TOPMed gnomAD
rs947345785 CA224004658	512	C>R		No	ClinGen TOPMed gnomAD
rs1042955209 CA224004660	512	C>W		No	ClinGen TOPMed gnomAD
rs1590740896 CA381263473	513	G>A		No	ClinGen Ensembl
rs770817615 CA381263471	513	G>C		No	ClinGen ExAC TOPMed gnomAD
rs770817615 CA6099838	513	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1314358500 CA381263482	515	T>A		No	ClinGen gnomAD
CA6099839 rs372352176	515	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338171174 CA381263511	519	E>A		No	ClinGen TOPMed
CA6099840 rs745306335 CA381263512	519	E>D		No	ClinGen ExAC gnomAD
CA381263506 rs1269360144	519	E>K		No	ClinGen gnomAD
rs1311321373 CA381263517	520	K>R		No	ClinGen TOPMed
CA224004721 rs978266480	522	V>M		No	ClinGen TOPMed gnomAD
CA224004723 rs879895102	523	R>*		No	ClinGen TOPMed gnomAD
COSM930417 COSM1585916 rs201987433 CA6099842	523	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6099844 rs769181430	524	D>A		No	ClinGen ExAC gnomAD
CA6099843 rs374245393	524	D>H		No	ClinGen ESP ExAC TOPMed
CA381263565 rs374509053	526	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs374509053 CA6099861	526	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000976175 CA6099864 rs553035759	531	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6099863 rs748978822	531	R>W		No	ClinGen ExAC TOPMed gnomAD
CA381263601 rs1229431510	532	S>N		No	ClinGen gnomAD
rs774871756 CA6099865	532	S>R		No	ClinGen ExAC gnomAD
CA381263598 rs1311613729	532	S>R		No	ClinGen gnomAD
CA224004861 rs888118452	539	S>C		No	ClinGen TOPMed gnomAD
rs888118452 CA224004862	539	S>F		No	ClinGen TOPMed gnomAD
rs377549319 CA6099866 COSM194235	541	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA224004863 rs897306635	542	E>D		No	ClinGen TOPMed
rs572796072 CA6099868	544	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1391600183 CA381263683	545	T>A		No	ClinGen TOPMed gnomAD
CA381263685 rs1428276997	545	T>N		No	ClinGen gnomAD
rs1292235825 CA381263709	549	E>K		No	ClinGen gnomAD
CA381263719 rs1183630197	550	V>E		No	ClinGen TOPMed
CA381263722 rs1367070640	551	E>K		No	ClinGen gnomAD
CA381263723 rs1367070640	551	E>Q		No	ClinGen gnomAD
rs1237694356 CA381263747	552	K>R		No	ClinGen gnomAD
rs1473999703 CA381263750	553	D>N		No	ClinGen gnomAD
rs948473410 CA224005181	555	H>R		No	ClinGen Ensembl
rs753824587 CA6099901	555	H>Y		No	ClinGen ExAC gnomAD
CA381263770 rs1405291179	556	A>T		No	ClinGen TOPMed
CA6099902 rs754594315	556	A>V		No	ClinGen ExAC gnomAD
CA381263775 rs1161916664	557	A>T		No	ClinGen gnomAD
TCGA novel	560	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306508826 CA381263811	562	M>R		No	ClinGen gnomAD
rs1306508826 CA381263810	562	M>T		No	ClinGen gnomAD
CA224005186 rs367798590	562	M>V		No	ClinGen ESP gnomAD
CA381263827 rs1176836527	565	A>T		No	ClinGen TOPMed
CA6099904 rs752438867	566	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6099905 COSM1585936 rs752438867 COSM930418	566	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778226223 CA6099906	568	S>T		No	ClinGen ExAC gnomAD
rs771319241 CA6099908	570	A>S		No	ClinGen ExAC gnomAD
CA381263862 rs1590742391	570	A>V		No	ClinGen Ensembl
rs781704923 CA6099909	571	G>D		No	ClinGen ExAC gnomAD
rs1326552855 CA381263875	572	W>*		No	ClinGen gnomAD
rs1278952127 CA381263885	574	V>M		No	ClinGen gnomAD
rs769901675 CA6099911	575	T>I		No	ClinGen ExAC gnomAD
CA381263895 rs1207532418	576	G>R		No	ClinGen gnomAD
rs1590742471 CA381263906	577	V>G		No	ClinGen Ensembl
CA381263926 rs1203019467	581	T>A		No	ClinGen gnomAD
CA381263929 rs1483553321	581	T>I		No	ClinGen gnomAD
rs1203019467 CA381263925	581	T>P		No	ClinGen gnomAD
rs773065526 CA6099915	582	S>Y		No	ClinGen ExAC
CA6099916 rs760456789	583	K>N		No	ClinGen ExAC gnomAD
rs1442312773 CA381263941	583	K>R		No	ClinGen TOPMed
CA6099917 rs766264413	584	L>M		No	ClinGen ExAC gnomAD
CA381263956 rs1427307643	586	R>C		No	ClinGen gnomAD
CA381263957 rs1412986220	586	R>H		No	ClinGen gnomAD
CA6099920 rs754563539	587	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1590742662 CA381263969	588	H>P		No	ClinGen Ensembl
rs372230902 CA6099922	588	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA381263976 rs1348528155	589	P>R		No	ClinGen gnomAD
rs751208419 CA6099924	591	T>P		No	ClinGen ExAC gnomAD
CA6099926 rs781502358	594	T>K		No	ClinGen ExAC gnomAD
CA381264007 rs1483623385	595	E>K		No	ClinGen gnomAD
CA381264019 rs1341531841	596	T>I		No	ClinGen TOPMed
rs777902864 CA6099927	599	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6099928 rs770236935	600	Q>R		No	ClinGen ExAC gnomAD
rs1590742772 CA381264052	601	R>S		No	ClinGen Ensembl
rs752403987 CA6099929	603	T>M	Variant assessed as Somatic; 9.448e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381264065 rs1248546004	604	P>T		No	ClinGen gnomAD
rs755062750 CA6099952	606	G>E		No	ClinGen ExAC TOPMed gnomAD
rs779021365 CA6099954	609	A>T		No	ClinGen ExAC gnomAD
rs934195039 CA224005532	609	A>V		No	ClinGen TOPMed gnomAD
CA6099956 rs772375831	610	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6099955 rs200031106	610	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1267808335 CA381264117	611	A>V		No	ClinGen gnomAD
TCGA novel	613	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	613	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756664937 CA381264125	613	T>P		No	ClinGen ExAC TOPMed gnomAD
rs756664937 CA6099957	613	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1565079212 CA381264130	614	P>T		No	ClinGen Ensembl
rs1207123788 CA381264139	615	V>F		No	ClinGen gnomAD
rs769695050 CA6099960	616	P>L		No	ClinGen ExAC gnomAD
rs1214475509 CA381264148	617	A>T		No	ClinGen TOPMed
CA381264167 rs1369941506	619	P>R		No	ClinGen TOPMed gnomAD
rs1187971247 CA381264165	619	P>S		No	ClinGen gnomAD
TCGA novel	620	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762912713 CA6099962	622	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs554915845 CA6099963	623	G>D		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	624	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381264204 rs1458357965	624	H>R		No	ClinGen gnomAD
CA224005559 rs928926221	624	H>Y		No	ClinGen Ensembl
CA381264208 rs1286801242	625	W>R		No	ClinGen gnomAD
CA6099964 rs773861156	626	E>D		No	ClinGen ExAC TOPMed gnomAD
rs202155473 RCV000954963 CA6099965	627	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6099967 rs750071669	629	E>K		No	ClinGen ExAC TOPMed gnomAD
CA381264254 rs1345674551	630	E>D		No	ClinGen TOPMed
CA6099968 rs756530092	630	E>Q		No	ClinGen ExAC gnomAD
rs1284821695 CA381264259	631	D>A		No	ClinGen TOPMed
CA224005590 rs911834141	631	D>E		No	ClinGen TOPMed
rs754342565 CA6099970	635	A>S		No	ClinGen ExAC gnomAD
rs755472981 CA6099971	635	A>V		No	ClinGen ExAC gnomAD
CA381264296 rs1260410824	636	E>K		No	ClinGen gnomAD
rs868281530 CA224005618	637	D>E		No	ClinGen TOPMed
CA224005610 rs768787548	637	D>N		No	ClinGen Ensembl
rs1380235803 CA381264314	638	S>G		No	ClinGen TOPMed gnomAD
rs1258027151 CA381264325	639	S>N		No	ClinGen gnomAD
TCGA novel	639	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381264330 rs1484560904	640	T>A		No	ClinGen gnomAD
CA381264334 rs1357962172	640	T>I		No	ClinGen TOPMed
rs543864282 CA6099974	643	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6099975 rs778210713	644	W>*		No	ClinGen ExAC gnomAD
CA6099978 rs775310881	646	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1427957262 CA381264377	646	D>V		No	ClinGen TOPMed
rs368944476 CA6099979	647	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA381264393 rs1590744778	648	D>V		No	ClinGen Ensembl
CA381264398 rs1414545697	649	W>R		No	ClinGen gnomAD
rs2845563 CA6099981	651	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381264420 rs1222515595	652	L>V		No	ClinGen gnomAD
CA6099995 rs373178890	654	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA381264454 rs1488543395	655	E>K		No	ClinGen gnomAD
TCGA novel	656	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224006215 rs898779702	656	A>T		No	ClinGen TOPMed gnomAD
rs867368865 CA224006227	657	E>*		No	ClinGen Ensembl
CA381264497 rs1408570262	662	Q>*		No	ClinGen gnomAD
CA6099996 rs757448224	662	Q>R		No	ClinGen ExAC gnomAD
RCV000880118 CA6099997 rs56076708 VAR_041366	663	Q>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA224006228 rs866497836	663	Q>K		No	ClinGen Ensembl
rs1350955300 CA381264505	663	Q>R		No	ClinGen gnomAD
rs768330341 CA381264514	664	D>E		No	ClinGen ExAC TOPMed gnomAD
rs778879281 CA6100000	665	D>N		No	ClinGen ExAC TOPMed gnomAD
CA381264529 rs1436099680	666	W>*		No	ClinGen gnomAD
rs1300073968 CA381264533	667	S>G		No	ClinGen TOPMed gnomAD
rs748057840 CA381264536	667	S>I		No	ClinGen ExAC TOPMed gnomAD
rs748057840 CA6100001	667	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1212552571 CA381264543	668	T>I		No	ClinGen gnomAD
rs1212552571 CA381264542	668	T>N		No	ClinGen gnomAD
TCGA novel	668	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215442542 CA381264546	669	G>E		No	ClinGen gnomAD
rs371045520 CA6100003 CA6100004	669	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs371045520 CA381264545	669	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1197315402 CA381264552	670	G>A		No	ClinGen gnomAD
TCGA novel	670	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381264559 rs1467630441	671	Q>R		No	ClinGen gnomAD
rs776868320 CA6100006	674	R>C		No	ClinGen ExAC gnomAD
rs200493885 CA6100007	674	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA381264581 rs1474660461	675	A>T		No	ClinGen gnomAD
CA224006263 rs1018737160	677	Q>L		No	ClinGen Ensembl
CA6100040 rs756844612	682	D>G		No	ClinGen ExAC gnomAD
RCV000880670 CA6100038 rs199946104	682	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199946104 CA6100039	682	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410479886 CA381264669	686	S>P		No	ClinGen gnomAD
CA6100042 rs898442618	688	S>P		No	ClinGen TOPMed
rs1330803184 CA381264691	689	P>L		No	ClinGen gnomAD
CA6100044 rs1554970718	689	P>S		No	ClinGen Ensembl
CA381264699 COSM115764 rs1216226387	690	E>G	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA381264696 rs1440788043	690	E>Q		No	ClinGen gnomAD
CA381264708 rs1372749573	691	S>F		No	ClinGen gnomAD
rs775998594 CA6100048	692	D>N		No	ClinGen ExAC gnomAD
rs1260832875 CA381264720	693	W>R		No	ClinGen TOPMed
CA381264741 rs1343243868	695	S>N		No	ClinGen gnomAD
rs1198140772 CA381264750	696	W>*		No	ClinGen gnomAD
rs749735335 CA6100049	698	A>D		No	ClinGen ExAC gnomAD
rs879198579 CA224006440	700	G>S		No	ClinGen Ensembl
CA6100050 rs769127882	703	E>K		No	ClinGen ExAC gnomAD
rs769127882 CA224006449	703	E>Q		No	ClinGen ExAC gnomAD
CA381264817 rs1193182147	704	Q>*		No	ClinGen gnomAD
CA381264824 rs993992884	705	G>C		No	ClinGen TOPMed gnomAD
rs993992884 CA224006451	705	G>S		No	ClinGen TOPMed gnomAD
rs1475614261 CA381264828	705	G>V		No	ClinGen gnomAD
CA381264843 rs1394217135	707	Q>*		No	ClinGen gnomAD
rs370180815 CA6100052	710	S>R		No	ClinGen ESP ExAC gnomAD
CA6100053 rs767667165	712	Q>E		No	ClinGen ExAC gnomAD
rs374521201 CA224006458	713	E>Q		No	ClinGen ESP TOPMed
COSM1355945 CA224006465 COSM1355944 rs981212419	714	P>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA6100055 rs760901275	714	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1268738941 CA381264906	715	P>S		No	ClinGen TOPMed gnomAD
rs758250704 CA6100059	717	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6100060 rs201172030	718	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1248843992 CA381264947	720	R>Q		No	ClinGen TOPMed gnomAD
CA6100062 rs201119677 RCV000974468	720	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA381264972 rs1195083208	723	S>N		No	ClinGen gnomAD
rs931557969 CA224006499	724	E>G		No	ClinGen Ensembl
CA381264989 rs1406380598	725	Y>C		No	ClinGen TOPMed gnomAD
CA381264986 rs1466071693	725	Y>H		No	ClinGen TOPMed
rs1590748933 CA381265001	726	N>K		No	ClinGen Ensembl
rs1165486045 CA381264998	726	N>S		No	ClinGen gnomAD
CA381265009 TCGA novel rs779908670	727	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA6100065 rs779908670	727	W>C		No	ClinGen ExAC gnomAD
TCGA novel	727	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381265007 rs1202832444	727	W>S		No	ClinGen TOPMed
rs748925905 CA6100066	728	G>D		No	ClinGen ExAC gnomAD
rs748925905 CA6100067	728	G>V		No	ClinGen ExAC gnomAD
CA381265018 rs1324860630	729	G>S		No	ClinGen gnomAD
rs748711760 CA6100069	730	P>A		No	ClinGen ExAC gnomAD
CA381265055 rs1326159531	733	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs202171988 CA6100071	734	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs760815022 CA6100072	735	K>R		No	ClinGen ExAC gnomAD
CA381265081 rs1232724545	736	G>D		No	ClinGen gnomAD
CA381265076 rs1590749112	736	G>S		No	ClinGen Ensembl
rs1554970836 CA6100074	737	D>A		No	ClinGen Ensembl
rs944213047 CA224006565	737	D>N		No	ClinGen Ensembl
rs759727682 CA381265106	739	F>L		No	ClinGen ExAC TOPMed gnomAD
CA381265110 rs1371934941	740	A>D		No	ClinGen gnomAD
rs1259414618 CA381265107	740	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1446199396 CA381265121	741	T>I		No	ClinGen gnomAD
CA6100079 rs751251610	743	S>C		No	ClinGen ExAC gnomAD
CA6100078 rs763967755	743	S>T		No	ClinGen ExAC gnomAD
rs1163619216 CA381265145	744	A>V		No	ClinGen gnomAD
rs866122670 CA224006584	745	R>C		No	ClinGen gnomAD
CA381265153 rs1455034490	745	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1156430811 CA381265157	746	P>T		No	ClinGen gnomAD
CA381265168 rs1415743697	747	S>N		No	ClinGen gnomAD
CA381265174 rs1590749375	748	T>P		No	ClinGen Ensembl
rs774713360 CA224006608	749	Q>*		No	ClinGen gnomAD
CA224006699 rs926717873	750	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1251783952 CA381265222	752	P>L		No	ClinGen gnomAD
CA6100098 rs775772873	752	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1481354373 CA381265230	753	D>G		No	ClinGen gnomAD
CA381265240 rs1193600398	754	S>F		No	ClinGen TOPMed gnomAD
rs11548537 CA224006705	755	W>*		No	ClinGen Ensembl
VAR_041367 rs56077405 CA6100099	755	W>S		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1231691667 CA381265251	756	G>S		No	ClinGen gnomAD
rs1171780502 CA381265273	758	D>E		No	ClinGen gnomAD
rs1356765146 CA381265291	760	W>*		No	ClinGen gnomAD
CA381265294 rs1369929176	761	E>K		No	ClinGen TOPMed
rs1297684278 CA381265321	764	E>K		No	ClinGen gnomAD
CA381265340 rs1385077846	766	D>H		No	ClinGen gnomAD
CA679344383 rs1179432312	767	S>*		No	ClinGen TOPMed
CA381265356 rs1443152869	767	S>R		No	ClinGen TOPMed gnomAD
CA381265348 rs1443453553	767	S>R		No	ClinGen gnomAD
CA381265358 rs1301516986	768	R>G		No	ClinGen TOPMed gnomAD
rs1356036646 CA381265428	768	R>Q		No	ClinGen gnomAD
CA6100115 rs769900982	770	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1450143944 CA381265461	772	A>T		No	ClinGen gnomAD
rs899960373 CA224006811	772	A>V		No	ClinGen TOPMed
rs1224057842 CA381265478	774	L>V		No	ClinGen gnomAD
CA381265487 rs1216367450	775	A>G		No	ClinGen gnomAD
rs573462705 CA224006823	775	A>P		No	ClinGen 1000Genomes gnomAD
rs573462705 CA381265484	775	A>T		No	ClinGen 1000Genomes gnomAD
rs370701660 CA6100118	776	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749493894 CA6100117	776	R>W		No	ClinGen ExAC TOPMed gnomAD
CA224006829 rs556081911	777	K>R		No	ClinGen 1000Genomes
CA6100119 COSM1581634 rs773092805 COSM1581633	779	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1470552761 CA381265517	779	R>H		No	ClinGen TOPMed gnomAD
rs575977540 CA381265523	780	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs575977540 CA6100120	780	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA381265527 rs1406037810	780	E>V		No	ClinGen gnomAD
CA6100121 rs766354334	782	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381265542 rs1419276561	782	R>W		No	ClinGen gnomAD
CA381265551 rs1375772475	783	R>L		No	ClinGen gnomAD
rs1050154207 CA224006863	784	R>Q		No	ClinGen TOPMed gnomAD
rs759029574 CA6100123	784	R>W		No	ClinGen ExAC TOPMed gnomAD
CA224006869 rs200041750	785	E>G		No	ClinGen TOPMed
CA224006865 rs899628558	785	E>K		No	ClinGen TOPMed
CA6100125 rs200704028	786	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1238886246 CA381265583	788	A>T		No	ClinGen gnomAD
rs764451963 CA6100127	789	K>Q		No	ClinGen ExAC gnomAD
rs1209439165 CA381265602	790	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs757610725 CA381265609	791	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6100129 rs757610725	791	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381265612 rs1206742980	791	A>V		No	ClinGen gnomAD
rs1231208652 CA381265615	792	E>K		No	ClinGen gnomAD
rs1460991558 CA381265627	793	R>K		No	ClinGen TOPMed
rs1395528046 CA381265632	793	R>S		No	ClinGen gnomAD
rs1194490296 CA381265626	793	R>W		No	ClinGen gnomAD
rs1170796310 CA381265646	795	V>G		No	ClinGen gnomAD
rs1397432651 CA381265668	798	G>D		No	ClinGen TOPMed gnomAD
rs1330310896 CA381265665	798	G>S		No	ClinGen gnomAD
rs1397432651 CA381265670	798	G>V		No	ClinGen TOPMed gnomAD
rs1025230766 CA224006947	800	M>I		No	ClinGen Ensembl
TCGA novel	800	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6100136 rs768942150	800	M>V		No	ClinGen ExAC gnomAD
COSM1188302 CA381265705 rs1232524950	803	G>A	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs773146247 CA6100137	804	A>T		No	ClinGen ExAC gnomAD
CA381265712 rs1216769195	805	R>G		No	ClinGen gnomAD
rs746869284 CA224006948	805	R>P		No	ClinGen ExAC TOPMed gnomAD
rs746869284 CA6100138	805	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381265713 rs1216769195	805	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6100140 rs61893784	808	D>A		No	ClinGen ExAC TOPMed gnomAD
CA224006965 rs61893784	808	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6100139 rs770837602	808	D>N		No	ClinGen ExAC gnomAD

1 associated diseases with Q96KG9

[MIM: 616719]: Spinocerebellar ataxia, autosomal recessive, 21 (SCAR21)

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy. {ECO:0000269|PubMed:26581903}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy. {ECO:0000269|PubMed:26581903}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q96KG9

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	14 - 314	IPR000719

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus, cis-Golgi network	Localized to the Endoplasmic reticulum-Golgi intermediate and cis-Golgi in an ARF1-independent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cis-Golgi network	The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum.
COPI vesicle coat	One of two multimeric complexes that forms a membrane vesicle coat. The mammalian COPI subunits are called alpha-, beta-, beta'-, gamma-, delta-, epsilon- and zeta-COP. Vesicles with COPI coats are found associated with Golgi membranes at steady state.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum-Golgi intermediate compartment	A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
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.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

5 GO annotations of biological process

Name	Definition
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG.
spinal cord motor neuron differentiation	The process in which neuroepithelial cells in the ventral neural tube acquire specialized structural and/or functional features of motor neurons. Motor neurons innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses from the brain to the periphery. Differentiation includes the processes involved in commitment of a cell to a specific fate.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DBQ7	Scyl3	Protein-associating with the carboxyl-terminal domain of ezrin	Mus musculus (Mouse)	PR
Q5M9F8	Scyl1	N-terminal kinase-like protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MWFFARDPVR	DFPFELIPEP	PEGGLPGPWA	LHRGRKKATG	SPVSIFVYDV	KPGAEEQTQV
70	80	90	100	110	120
AKAAFKRFKT	LRHPNILAYI	DGLETEKCLH	VVTEAVTPLG	IYLKARVEAG	GLKELEISWG
130	140	150	160	170	180
LHQIVKALSF	LVNDCSLIHN	NVCMAAVFVD	RAGEWKLGGL	DYMYSAQGNG	GGPPRKGIPE
190	200	210	220	230	240
LEQYDPPELA	DSSGRVVREK	WSADMWRLGC	LIWEVFNGPL	PRAAALRNPG	KIPKTLVPHY
250	260	270	280	290	300
CELVGANPKV	RPNPARFLQN	CRAPGGFMSN	RFVETNLFLE	EIQIKEPAEK	QKFFQELSKS
310	320	330	340	350	360
LDAFPEDFCR	HKVLPQLLTA	FEFGNAGAVV	LTPLFKVGKF	LSAEEYQQKI	IPVVVKMFSS
370	380	390	400	410	420
TDRAMRIRLL	QQMEQFIQYL	DEPTVNTQIF	PHVVHGFLDT	NPAIREQTVK	SMLLLAPKLN
430	440	450	460	470	480
EANLNVELMK	HFARLQAKDE	QGPIRCNTTV	CLGKIGSYLS	ASTRHRVLTS	AFSRATRDPF
490	500	510	520	530	540
APSRVAGVLG	FAATHNLYSM	NDCAQKILPV	LCGLTVDPEK	SVRDQAFKAI	RSFLSKLESV
550	560	570	580	590	600
SEDPTQLEEV	EKDVHAASSP	GMGGAAASWA	GWAVTGVSSL	TSKLIRSHPT	TAPTETNIPQ
610	620	630	640	650	660
RPTPEGVPAP	APTPVPATPT	TSGHWETQEE	DKDTAEDSST	ADRWDDEDWG	SLEQEAESVL
670	680	690	700	710	720
AQQDDWSTGG	QVSRASQVSN	SDHKSSKSPE	SDWSSWEAEG	SWEQGWQEPS	SQEPPPDGTR
730	740	750	760	770	780
LASEYNWGGP	ESSDKGDPFA	TLSARPSTQP	RPDSWGEDNW	EGLETDSRQV	KAELARKKRE
790	800
ERRREMEAKR	AERKVAKGPM	KLGARKLD