AiPD: Autoinhibited Protein Database

Q15835

Gene name	GRK1
Protein name	Rhodopsin kinase GRK1
Names	RK, G protein-coupled receptor kinase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6011
EC number	2.7.11.14: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-71 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-71 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

334-357 (Activation loop from InterPro)

Target domain	188-475 (Catalytic domain of the Serine/Threonine Kinase, G protein-coupled Receptor Kinase 1)
Relief mechanism
Assay

References

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

Autoinhibited structure

Activated structure

2 structures for Q15835

Entry ID	Method	Resolution	Chain	Position	Source
5AFP	X-ray	230 A	C/D	1-25	PDB
AF-Q15835-F1	Predicted				AlphaFoldDB

536 variants for Q15835

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7066021 RCV001175403 rs370713047	19	R>*	Oguchi disease-2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA388822393 RCV000790922 rs1243049516	31	R>Q	Oguchi disease [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001175389 rs748680704	48	E>missing	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
RCV001175390 rs2049829612	157	L>P	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
RCV001175391 rs2049830881	199	G>R	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
RCV001175392 rs761138317	205	S>*	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
RCV001175394 rs753470112 CA7066254	308	L>P	Oguchi disease-2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs2049858551 RCV001175395	324	L>missing	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
rs1441327018 CA388818361 RCV001175396	362	E>K	Variant assessed as Somatic; 0.0 impact. Oguchi disease-2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV001175397 rs2049935254	377	A>P	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
rs777094000 VAR_006215 CA034664 RCV000013884	380	V>D	Oguchi disease-2 CSNBO2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs995065177 CA257164838 RCV001175398	380	V>F	Oguchi disease-2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs570621429 CA7066314 RCV000013886 VAR_037904	391	P>H	Oguchi disease-2 CSNBO2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
RCV001175399 rs137877289 CA257164878	393	R>*	Oguchi disease-2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA7066338 RCV001175405 rs765070399	438	R>C	Oguchi disease-2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001175404 RCV000787607 rs1594580431 CA388819950	462	Q>*	Congenital stationary night blindness Oguchi disease-2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2049992612 RCV001175400	471	P>missing	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
RCV001175401 rs2049994399	517	P>missing	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
rs756235051 RCV001175402	537	D>missing	Oguchi disease-2 [ClinVar]	Yes	ClinVar dbSNP
rs914025979 CA257220005	3	F>V		No	ClinGen Ensembl
CA7066007 rs200813373 CA7066006	4	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325184357 CA388822056	4	G>V		No	ClinGen gnomAD
CA7066009 rs774270024	5	S>A		No	ClinGen ExAC gnomAD
rs1279817294 CA388822067	5	S>Y		No	ClinGen TOPMed gnomAD
rs1224541029 CA388822115	7	E>D		No	ClinGen TOPMed gnomAD
CA388822093 rs1306567282	7	E>Q		No	ClinGen gnomAD
CA7066011 rs370758170	8	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA388822136 rs1468586161	8	T>I		No	ClinGen gnomAD
CA388822144 rs184639495	9	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7066013 rs184639495	9	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA257220024 rs925234534	10	V>A		No	ClinGen TOPMed
rs925234534 CA257220025	10	V>E		No	ClinGen TOPMed
CA388822180 rs1188694588	11	A>D		No	ClinGen gnomAD
rs1420418373 CA388822210	13	S>P		No	ClinGen gnomAD
CA388822226 rs1420070432	14	A>D		No	ClinGen gnomAD
CA257220030 rs937986071	14	A>T		No	ClinGen TOPMed gnomAD
CA388822252 rs757414694	16	I>M		No	ClinGen ExAC gnomAD
CA7066015 rs551401463	16	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1392238781 CA388822256	17	A>T		No	ClinGen gnomAD
rs746360692 CA7066018	18	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388822278 rs370713047	19	R>G		No	ClinGen ESP ExAC gnomAD
COSM432164 CA7066022 rs374698122	19	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs367700592 CA388822347	24	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7066024 rs367700592	24	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs367700592 CA388822346	24	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7066025 rs770418702	30	S>F		No	ClinGen ExAC gnomAD
CA7066026 rs201676748	31	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485767680 CA388822419	34	K>N		No	ClinGen TOPMed gnomAD
CA388822434 rs1594569990	35	Y>*		No	ClinGen Ensembl
CA388822422 rs759437719	35	Y>H		No	ClinGen ExAC
CA7066027 rs759437719	35	Y>N		No	ClinGen ExAC
CA7066028 rs772079701	36	L>V		No	ClinGen ExAC TOPMed gnomAD
rs549431756 CA257220072	37	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1475553367 CA388822462	37	A>V		No	ClinGen gnomAD
CA388822465 rs1594570003	38	K>Q		No	ClinGen Ensembl
rs1164308765 CA388822489	39	L>F		No	ClinGen TOPMed gnomAD
rs775100181 CA7066029	40	K>N		No	ClinGen ExAC gnomAD
rs760531390 CA7066030	43	P>L		No	ClinGen ExAC TOPMed gnomAD
CA388822535 rs1159829765	43	P>T		No	ClinGen gnomAD
rs754107784 CA7066032	45	S>F		No	ClinGen ExAC gnomAD
rs199632109 CA7066036	51	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs758788971 COSM1477101 CA7066037	51	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1466388624 CA388822686	52	D>N		No	ClinGen TOPMed
CA7066039 rs200774682	54	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388822746 rs1282655491	55	S>I		No	ClinGen gnomAD
TCGA novel	57	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388822817 rs369124904	58	F>L		No	ClinGen ESP
CA388822807 rs1486128871	58	F>S		No	ClinGen gnomAD
CA388822820 rs1187576493	59	E>Q		No	ClinGen gnomAD
rs1235802388 CA388822840	60	S>R		No	ClinGen gnomAD
rs761594452 CA388822856	60	S>R		No	ClinGen gnomAD
CA7066041 rs781598529	63	L>S		No	ClinGen ExAC gnomAD
rs966485607 CA257220123	64	E>Q		No	ClinGen TOPMed
rs748918458 CA7066042	66	P>A		No	ClinGen ExAC gnomAD
rs1021402118 CA257220137	66	P>H		No	ClinGen Ensembl
CA7066043 rs371644978	67	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	68	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745407122 CA388822981	68	G>R		No	ClinGen ExAC TOPMed gnomAD
rs745407122 CA7066045	68	G>S		No	ClinGen ExAC TOPMed gnomAD
CA257220152 rs979559185	71	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA388823043 rs979559185	71	L>V		No	ClinGen gnomAD
CA388823052 rs1442326608	72	F>L		No	ClinGen gnomAD
rs1238355634 CA388823167	78	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA388823203 rs1251177964	80	E>D		No	ClinGen TOPMed
rs1594570112 CA388823239	82	H>P		No	ClinGen Ensembl
CA388823250 rs368926839	82	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7066050 rs768483340	83	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA7066052 rs372559555	84	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs776613228 CA7066051 COSM227104	84	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA388823296 rs1205350991	86	L>P		No	ClinGen gnomAD
rs1205350991 CA388823297	86	L>R		No	ClinGen gnomAD
rs1437767151 CA388823298	87	E>K		No	ClinGen gnomAD
rs767636796 CA257220175	90	K>T		No	ClinGen Ensembl
CA388823365 rs1395418875	92	I>F		No	ClinGen gnomAD
CA7066055 rs373170219	92	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421245319 TCGA novel CA388823380	93	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA7066057 rs752097480	93	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1594570142 CA388823384	94	D>Y		No	ClinGen Ensembl
rs1327618518 CA388823409	96	D>A		No	ClinGen gnomAD
CA388823402 rs1409971918	96	D>N		No	ClinGen gnomAD
rs116680839 CA7066058	97	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1328567556 CA388823427	98	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7066060 rs753091560	101	D>A		No	ClinGen ExAC gnomAD
CA388823499 rs1233015816	102	L>F		No	ClinGen gnomAD
CA7066061 rs756856414	102	L>P		No	ClinGen ExAC gnomAD
CA257220211 rs907639221	103	Q>E		No	ClinGen TOPMed
rs1047946130 CA257220214	104	P>L		No	ClinGen Ensembl
rs376909978 CA257220213	104	P>T		No	ClinGen 1000Genomes gnomAD
CA388823569 rs1215183773	106	K>T		No	ClinGen gnomAD
CA388823584 rs1392065683	107	A>S		No	ClinGen TOPMed
CA388823591 rs1169252058	107	A>V		No	ClinGen TOPMed
CA7066062 rs778552256	109	T>I		No	ClinGen ExAC TOPMed gnomAD
CA388823614 rs778552256	109	T>N		No	ClinGen ExAC TOPMed gnomAD
CA7066063 rs745307850	111	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388823655 rs1215457549	112	A>G		No	ClinGen TOPMed gnomAD
CA388823658 rs1215457549	112	A>V		No	ClinGen TOPMed gnomAD
rs940831399 CA257220229	116	D>G		No	ClinGen TOPMed
CA388823713 rs1484348524	116	D>H		No	ClinGen TOPMed
TCGA novel	118	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746939483 CA7066067	119	A>D		No	ClinGen ExAC gnomAD
CA388823813 rs1475529342	121	L>P		No	ClinGen gnomAD
rs768750029 CA7066068	122	F>L		No	ClinGen ExAC gnomAD
CA388823823 rs1290588792	122	F>S		No	ClinGen gnomAD
rs370160675 CA7066069	123	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7066070 rs370160675	123	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7066072 rs770077231	127	D>G		No	ClinGen ExAC TOPMed gnomAD
CA388823916 rs1167672630 CA388823919	129	G>R		No	ClinGen TOPMed gnomAD
CA7066073 rs373055452	130	I>T		No	ClinGen ESP ExAC gnomAD
CA7066075 rs377654969	132	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA257220268 rs1056198528	134	F>L		No	ClinGen TOPMed
VAR_008283 rs542688076 CA7066077	136	E>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs768036501 CA7066078	136	E>V		No	ClinGen ExAC gnomAD
rs1316088721 CA388824033	137	G>V		No	ClinGen gnomAD
CA7066079 rs753003410	138	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753003410 CA7066080	138	P>T		No	ClinGen ExAC TOPMed gnomAD
COSM3813485 CA388824044 rs1355571438	139	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA257220289 rs997230443	140	E>G		No	ClinGen TOPMed
rs1247259488 CA388824069	141	I>F		No	ClinGen TOPMed gnomAD
CA388824087 rs1473278767	142	Q>H		No	ClinGen TOPMed
rs370485078 CA388824100	143	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA388824096 rs1363556559	143	D>V		No	ClinGen TOPMed
rs267603764 CA388824105	144	G>A		No	ClinGen TOPMed gnomAD
rs267603764 CA257220303	144	G>E		No	ClinGen TOPMed gnomAD
CA7066082 rs375261749 CA257220299	144	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7066083 rs375261749	144	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188055192 CA388824127	146	F>L		No	ClinGen gnomAD
rs1475880380 CA388824116	146	F>L		No	ClinGen gnomAD
rs746527764 CA7066085	147	Q>K		No	ClinGen ExAC gnomAD
rs967436121 CA257220319	148	P>T		No	ClinGen TOPMed
CA7066087 rs781285423	149	L>Q		No	ClinGen ExAC gnomAD
CA7066089 rs377600888	150	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7066090 rs772934000	151	Q>K		No	ClinGen ExAC gnomAD
CA388824179 rs1229939472	151	Q>L		No	ClinGen TOPMed
rs1566693190 CA388824184	152	A>P		No	ClinGen Ensembl
CA257220360 rs377003009	153	T>I		No	ClinGen TOPMed gnomAD
rs370154123 CA7066091	155	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340017086 CA388824226	156	H>L		No	ClinGen gnomAD
CA7066093 rs774440196	163	Q>*		No	ClinGen ExAC gnomAD
rs759627718 CA388824308	163	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA7066094 rs759627718	163	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1566693206 CA612869102	164	E>*		No	ClinGen Ensembl
CA7066095 rs767946791	164	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1486458110 CA388824331	165	Y>H		No	ClinGen gnomAD
CA388824334 rs1594570323	165	Y>S		No	ClinGen Ensembl
CA388824346 rs775970508	167	G>A		No	ClinGen ExAC gnomAD
CA7066096 rs775970508	167	G>D		No	ClinGen ExAC gnomAD
CA388824351 rs1421592119	168	S>N		No	ClinGen gnomAD
CA388824379 rs1413248949	172	L>R		No	ClinGen TOPMed
CA388824378 rs764419211	172	L>V		No	ClinGen ExAC gnomAD
CA7066099 rs754191036	175	L>V		No	ClinGen ExAC gnomAD
rs1032208968 CA257220389	176	Q>P		No	ClinGen TOPMed
CA388824412 rs1401557088	177	W>*		No	ClinGen gnomAD
CA388824410 rs1555360323	177	W>*		No	ClinGen ESP
CA257220393 rs1021474408	177	W>R		No	ClinGen gnomAD
rs200173343 CA388824418	178	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7066100 rs200173343	178	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1309010476 CA388824425	179	W>R		No	ClinGen gnomAD
CA257220401 rs77086018	181	E>G		No	ClinGen Ensembl
CA257220404 rs980309508	182	A>V		No	ClinGen gnomAD
rs866982931 CA257220418	185	M>I		No	ClinGen gnomAD
CA388824468 rs1211124364	185	M>R		No	ClinGen gnomAD
CA7066102 rs564727279	185	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257220430 rs368570293	186	G>R		No	ClinGen ESP TOPMed
CA388824483 rs1481964225	187	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7066103 rs754534727	190	F>L		No	ClinGen ExAC gnomAD
rs954331779 CA388824545	191	L>P		No	ClinGen TOPMed gnomAD
rs954331779 CA257220444	191	L>Q		No	ClinGen TOPMed gnomAD
rs992208174 CA257220445	192	D>N		No	ClinGen TOPMed gnomAD
rs756164447 CA7066106	193	F>L		No	ClinGen ExAC gnomAD
TCGA novel	197	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs929266545 CA388824610 CA257220467	197	G>R		No	ClinGen Ensembl
CA7066109 rs771129188	198	K>R		No	ClinGen ExAC gnomAD
rs1464550691 CA388824639	199	G>A		No	ClinGen gnomAD
TCGA novel	199	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779008910 CA7066110	200	G>D		No	ClinGen ExAC gnomAD
rs746154925 CA7066111	201	F>S		No	ClinGen ExAC gnomAD
rs775596167 CA7066113 CA388824667	202	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761138317 CA7066114	205	S>L		No	ClinGen ExAC TOPMed gnomAD
rs368338427 CA7066117	207	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA257220486 rs754810544	208	Q>R		No	ClinGen gnomAD
rs937573594 CA257220492	210	K>R		No	ClinGen TOPMed gnomAD
rs372061074 CA388824785	211	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372061074 CA7066118	211	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA388824793 rs896087599	212	T>I		No	ClinGen TOPMed gnomAD
CA257220502 rs896087599	212	T>N		No	ClinGen TOPMed gnomAD
CA7066120 rs145498429	213	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388824805 rs1266874004	214	K>N		No	ClinGen gnomAD
CA7066121 rs767108609	214	K>R		No	ClinGen ExAC TOPMed gnomAD
CA388824806 rs1431645878	215	L>M		No	ClinGen TOPMed gnomAD
rs1172897211 CA388824809	215	L>P		No	ClinGen gnomAD
rs549095982 CA7066122	216	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388824814 rs1373689498	216	Y>C		No	ClinGen gnomAD
rs369321523 CA7066123	218	C>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	219	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7066124 rs777585358	219	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1441286120 CA388824852	222	N>D		No	ClinGen gnomAD
CA257220553 rs540415509	222	N>K		No	ClinGen Ensembl
CA7066125 rs753603114	224	K>E		No	ClinGen ExAC gnomAD
rs778823487 CA7066127 COSM3376494	225	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs561462848 CA7066126	225	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs549573569 CA388824895	228	K>N		No	ClinGen ExAC TOPMed gnomAD
CA388824901 rs1256646267	229	R>K		No	ClinGen gnomAD
rs780065319 CA7066130	230	K>T		No	ClinGen ExAC TOPMed gnomAD
CA257220594 COSM1514016 rs1000323290	231	G>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA388824928 rs1000323290	231	G>V		No	ClinGen TOPMed gnomAD
CA7066134 rs762444027	232	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs777007025 CA7066133	232	Y>H		No	ClinGen ExAC gnomAD
CA388825532 rs1307092455	234	G>S		No	ClinGen TOPMed
rs1353524885 CA388825543	235	A>S		No	ClinGen gnomAD
rs755328701 CA7066164	236	M>T		No	ClinGen ExAC TOPMed gnomAD
rs765180821 CA7066163	236	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1340588858 CA388825568	237	V>A		No	ClinGen TOPMed
rs1443008829 CA388825565	237	V>L		No	ClinGen gnomAD
CA7066167 rs758191104	238	E>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	238	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7066168 rs116539667	241	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755270520 CA7066170	243	M>I		No	ClinGen ExAC gnomAD
CA388825634 rs1437652921	243	M>R		No	ClinGen gnomAD
rs1413362821 CA388825655	245	V>A		No	ClinGen gnomAD
rs1425432410 CA388825651	245	V>L		No	ClinGen gnomAD
CA257222186 rs910945455	247	S>N		No	ClinGen TOPMed
CA7066171 rs374523651	248	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs748286347 CA7066172	248	R>K		No	ClinGen ExAC gnomAD
CA7066173 rs756521141	248	R>S		No	ClinGen ExAC
CA7066174 rs566019826	249	F>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM1562367 CA257222214 rs936018736	251	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA388825762 rs775955001	256	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7066180 rs775955001	256	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7066182 rs765088759	259	T>I		No	ClinGen ExAC gnomAD
CA388825794 COSM1128413 rs1195294506	261	A>G	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA257222247 rs539703392	261	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7066183 rs539703392	261	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7066186 rs374352512	262	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374352512 CA7066185	262	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs367959831 CA7066187	263	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA388825803 rs1421011939	263	L>H		No	ClinGen gnomAD
rs367959831 CA257222288	263	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465703361 CA388825820 CA388825821	266	V>L		No	ClinGen gnomAD
CA388825837 rs1171927247	268	T>N		No	ClinGen gnomAD
rs1298400453 CA388825845	269	I>M		No	ClinGen gnomAD
CA7066188 rs767798065	269	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1444963873 CA388825850	270	M>T		No	ClinGen gnomAD
rs752653013 CA7066189	271	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	272	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778059246 CA7066191	272	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7066192 rs754377439	273	G>D		No	ClinGen ExAC gnomAD
CA7066193 rs757877082	274	D>V		No	ClinGen ExAC gnomAD
rs1222693566 CA388825886	276	R>G		No	ClinGen TOPMed
rs1242579377 CA388826345	277	Y>N		No	ClinGen gnomAD
rs1478582451 CA388826366	278	H>P		No	ClinGen gnomAD
CA7066222 rs774345790	280	Y>*		No	ClinGen ExAC gnomAD
rs759453363 CA7066223	281	N>S		No	ClinGen ExAC gnomAD
rs1386795293 CA388826416	282	V>A		No	ClinGen TOPMed gnomAD
COSM300965 rs762974373 CA257223494	282	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA388826435 rs1594572655	283	N>K		No	ClinGen Ensembl
rs771881371 CA7066224	283	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1321308907 CA388826439	284	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775191935 CA388826452	285	E>*		No	ClinGen ExAC gnomAD
CA7066225 rs775191935	285	E>Q		No	ClinGen ExAC gnomAD
rs538374079 CA7066226	286	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388826474 rs1382545439	287	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	288	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs117878269 CA7066230	290	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117878269 CA388826505	290	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117878269 CA388826504	290	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761984021 CA7066229	290	P>S		No	ClinGen ExAC gnomAD
CA388826508 rs1401634814	291	E>*		No	ClinGen gnomAD
CA388826509 rs1332728521	291	E>A		No	ClinGen gnomAD
COSM1239028 rs369158147 CA7066232	292	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7066234 rs751944438	293	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755707527 CA7066235	293	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756781524 CA7066238	294	A>D		No	ClinGen ExAC gnomAD
CA7066237 COSM945647 rs200986774	294	A>T	Variant assessed as Somatic; 0.000207 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs756781524 CA7066239	294	A>V		No	ClinGen ExAC gnomAD
CA7066240 rs542854745	295	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1342340131 CA388826551	296	F>I		No	ClinGen gnomAD
CA7066241 CA7066242 rs771932089	296	F>L		No	ClinGen ExAC TOPMed gnomAD
CA388826571 rs1301398755	297	Y>C		No	ClinGen TOPMed
RCV000761862 rs200053828 CA7066243	298	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7066245 rs572803634	298	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7066244 rs572803634 COSM201509 VAR_008284	298	T>M	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs765336892 CA7066247	299	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1566694571 CA388826600	300	Q>*		No	ClinGen Ensembl
rs763469902 CA388826611	301	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1422821976 CA388826617	301	I>T		No	ClinGen TOPMed
rs763469902 CA7066249	301	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1464619825 CA388826631	303	C>R		No	ClinGen TOPMed gnomAD
CA7066251 rs751856147	304	G>S		No	ClinGen ExAC TOPMed gnomAD
CA388826672 rs1369551482	306	E>D		No	ClinGen gnomAD
rs767932187 CA7066253	306	E>G		No	ClinGen ExAC gnomAD
CA388826665 rs1160122159	306	E>Q		No	ClinGen gnomAD
rs1368096930 CA388826673	307	H>N		No	ClinGen TOPMed gnomAD
CA7066257 rs745390037	312	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7066256 rs368488746	312	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA257223645 rs370954768	313	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	313	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747006257 CA7066260	314	V>A		No	ClinGen ExAC
CA7066259 rs374722973	314	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA257223659 rs866749386	315	Y>*		No	ClinGen Ensembl
CA7066261 rs202230353 COSM99065	316	R>C	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs748370092 CA7066264	316	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7066263 rs202230353	316	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7066266 rs773286953	317	D>N		No	ClinGen ExAC TOPMed
TCGA novel	317	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766547270 CA7066269	320	P>H		No	ClinGen ExAC
CA7066268 rs766547270	320	P>L		No	ClinGen ExAC
rs1176553670 CA388826806	320	P>T		No	ClinGen TOPMed
rs917628655 COSM1477103 CA388826823	321	E>D	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs371556611 CA7066271	321	E>K		No	ClinGen ESP ExAC TOPMed
TCGA novel	322	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388826838 rs761476725 COSM695919	323	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs761476725 CA7066273	323	V>M		No	ClinGen ExAC TOPMed
rs1555360509 CA388826867	326	D>G		No	ClinGen Ensembl
rs376631949 CA7066274	328	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA7066275 rs549610875	328	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7066277 rs779767769	329	G>S		No	ClinGen ExAC
CA7066284 rs375409897 VAR_008285	330	N>S		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA257161377 rs899268621	332	R>Q		No	ClinGen TOPMed
CA7066286 rs372114657	332	R>W		No	ClinGen ESP ExAC TOPMed
CA388817215 rs1477435134	336	L>P		No	ClinGen gnomAD
rs1168986245 CA388817212	336	L>V		No	ClinGen TOPMed
CA257161379 rs867878236	339	A>V		No	ClinGen TOPMed gnomAD
CA7066289 rs772592680	341	E>Q		No	ClinGen ExAC
rs775864531 CA7066290	342	L>M		No	ClinGen ExAC gnomAD
rs376066946 CA7066291	343	L>P		No	ClinGen ESP ExAC
rs1388162011 CA388817254	344	D>N		No	ClinGen TOPMed gnomAD
CA257161381 rs1055221900 CA388817262	345	G>R		No	ClinGen gnomAD
rs1339361784 CA388817278	347	S>N		No	ClinGen gnomAD
CA388817312 rs1323809754	352	Y>H		No	ClinGen gnomAD
rs1183314501 CA388817321	353	A>E		No	ClinGen TOPMed gnomAD
rs1025316864 CA388817320	353	A>S		No	ClinGen TOPMed gnomAD
COSM401450 rs1025316864 CA257161383	353	A>T	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA257161384 rs886412350	355	T>I		No	ClinGen TOPMed
rs572666922 CA7066294	355	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572666922 CA7066295	355	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576867290 CA257161385	356	P>L		No	ClinGen TOPMed
rs1005152817 CA257161386	357	G>S		No	ClinGen Ensembl
rs1239336689 CA388818274	357	G>V		No	ClinGen gnomAD
CA257164755 rs867428602	359	M>V		No	ClinGen gnomAD
rs923853720 CA257164759	360	A>P		No	ClinGen TOPMed
rs1181278181 CA388818337	360	A>V		No	ClinGen TOPMed gnomAD
rs547702537 CA388818430	365	Q>H		No	ClinGen 1000Genomes gnomAD
CA257164783 rs527731001	367	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs1449386461 CA388818518	370	D>E		No	ClinGen TOPMed gnomAD
CA257164796 rs1050104971	370	D>N		No	ClinGen TOPMed
CA388818525 rs1336671087	371	F>L		No	ClinGen gnomAD
rs1442721991 CA388818530	371	F>S		No	ClinGen TOPMed
CA257164802 rs977574361	372	S>A		No	ClinGen TOPMed gnomAD
CA257164801 rs977574361	372	S>P		No	ClinGen TOPMed gnomAD
CA257164807 rs760049938	373	V>M		No	ClinGen TOPMed gnomAD
CA257164817 rs780903200	374	D>G		No	ClinGen TOPMed gnomAD
rs1280824040 CA388818573	374	D>N		No	ClinGen gnomAD
CA257164822 rs1036570567	375	Y>C		No	ClinGen TOPMed
CA388818659 rs1458895104	378	L>V		No	ClinGen gnomAD
rs1468251567 CA388818711	381	T>A		No	ClinGen gnomAD
rs1176288575 CA388818788	385	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA388818780 rs762651951	385	M>K		No	ClinGen ExAC TOPMed gnomAD
CA7066310 rs762651951	385	M>T		No	ClinGen ExAC TOPMed gnomAD
CA388818772 rs1257094247	385	M>V		No	ClinGen gnomAD
TCGA novel	386	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766150912 CA7066311 COSM945649	387	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs570621429 CA7066315	391	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1442955535 CA388818907	392	F>C		No	ClinGen TOPMed
CA388818921 rs1294164225	393	R>Q		No	ClinGen TOPMed
TCGA novel	394	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388818930 rs1430150359	394	A>S		No	ClinGen TOPMed
rs1276844071 CA388818933	394	A>V		No	ClinGen TOPMed gnomAD
rs756120285 CA7066316	395	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7066317 rs201174276	395	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1261123846 CA388818976	396	G>V		No	ClinGen gnomAD
TCGA novel	398	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388819321 rs1594580239	399	V>G		No	ClinGen Ensembl
CA7066330 rs759311530	399	V>M		No	ClinGen ExAC
rs575182251 CA257166276	400	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs766909455 CA7066331	401	N>I		No	ClinGen ExAC TOPMed gnomAD
CA257166294 rs766909455	401	N>S		No	ClinGen ExAC TOPMed gnomAD
CA388819332 rs766909455	401	N>T		No	ClinGen ExAC TOPMed gnomAD
rs964200760 CA257166305	403	E>*		No	ClinGen Ensembl
CA7066332 RCV001091748 rs202076986	407	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388819372 rs1246959321	407	R>W		No	ClinGen TOPMed gnomAD
rs1287724840 CA388819399	411	E>G		No	ClinGen gnomAD
CA388819395 rs1243250896	411	E>K		No	ClinGen gnomAD
TCGA novel	413	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257166326 rs374689585	413	V>M		No	ClinGen ESP TOPMed
CA257166341 rs527669285	416	P>A		No	ClinGen Ensembl
rs1476646213 CA388819433	416	P>L		No	ClinGen TOPMed
rs946662002 CA257166348	417	D>G		No	ClinGen TOPMed gnomAD
rs367690330 CA7066335	417	D>H		No	ClinGen ESP ExAC gnomAD
TCGA novel	417	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388819460 rs1566698970	420	S>N		No	ClinGen Ensembl
CA388819467 rs1482871883	421	Q>*		No	ClinGen TOPMed
rs371835058 CA7066336	422	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA388819473 rs1190296150	422	A>T		No	ClinGen gnomAD
CA388819481 rs1444409927	423	S>N		No	ClinGen TOPMed gnomAD
CA257166353 rs1044026600	423	S>R		No	ClinGen gnomAD
CA388819482 rs1444409927	423	S>T		No	ClinGen TOPMed gnomAD
CA388819493 rs1263863049	425	D>N		No	ClinGen TOPMed
CA388819517 rs1366105876	428	E>K		No	ClinGen gnomAD
CA388819536 rs200452678	429	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7066337 rs200452678	429	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1334762666 CA388819545	431	L>M		No	ClinGen gnomAD
rs1042772331 CA257166393	432	E>Q		No	ClinGen TOPMed gnomAD
rs1381689665 CA388819586	434	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA388819598 rs1450224290	435	P>L		No	ClinGen TOPMed gnomAD
rs1450224290 CA388819602	435	P>R		No	ClinGen TOPMed gnomAD
CA388819627 rs1377152821	437	K>R		No	ClinGen gnomAD
rs750619057 VAR_008286 CA7066339 RCV000761863	438	R>H		No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1594580372 CA388819655	440	G>R		No	ClinGen Ensembl
CA257166419 rs1014733808	441	F>C		No	ClinGen gnomAD
rs1422960798 CA388819681	442	R>*		No	ClinGen TOPMed
rs1264306766 CA388819695	443	D>H		No	ClinGen gnomAD
CA388819724 rs1461738076	445	T>A		No	ClinGen TOPMed
rs758658855 CA257166424	446	C>*		No	ClinGen ExAC TOPMed gnomAD
CA257166425 rs998411901	447	D>E		No	ClinGen TOPMed gnomAD
rs1270114654 CA388819757	447	D>G		No	ClinGen gnomAD
rs1440551772 CA388819753	447	D>N		No	ClinGen gnomAD
CA388819788 rs1321434487	449	L>R		No	ClinGen TOPMed
CA7066341 rs779956968	450	R>C		No	ClinGen ExAC TOPMed gnomAD
rs541410904 CA7066342	450	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388819806 rs1405289501	451	A>V		No	ClinGen gnomAD
rs865897163 CA257166452	453	P>L		No	ClinGen gnomAD
rs781720898 CA7066344	453	P>S		No	ClinGen ExAC gnomAD
rs1017195834 CA257166454	459	N>K		No	ClinGen TOPMed gnomAD
rs1401851669 CA388819963	463	L>P		No	ClinGen TOPMed
TCGA novel	464	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559629294 CA388819965	464	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559629294 CA7066345	464	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257170180 rs971017041	467	M>K		No	ClinGen TOPMed gnomAD
rs150958245 CA7066353	469	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs982053985 CA257170185	470	P>S		No	ClinGen TOPMed
CA257170193 rs923582873	471	P>L		No	ClinGen TOPMed gnomAD
CA388820846 rs1167118409	471	P>S		No	ClinGen TOPMed
rs1566701153 CA388820875	472	F>L		No	ClinGen Ensembl
rs1237882621 CA388820887	473	I>V		No	ClinGen TOPMed
rs1459520774 CA388820906	474	P>A		No	ClinGen TOPMed
rs1251836989 CA388820917	474	P>L		No	ClinGen TOPMed
rs956384358 CA257170208	475	D>E		No	ClinGen TOPMed gnomAD
rs1195667576 CA388820983	478	T>S		No	ClinGen gnomAD
CA7066354 rs761784046	479	V>A		No	ClinGen ExAC gnomAD
CA388821010 rs1370046362	480	Y>H		No	ClinGen gnomAD
CA7066355 rs368786890	481	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	482	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372364537 CA7066356	483	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs903057160 CA257170231	485	Q>*		No	ClinGen TOPMed gnomAD
rs903057160 CA388821106	485	Q>E		No	ClinGen TOPMed gnomAD
CA7066357 rs763036530	487	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1054188782 CA257170239	488	G>S		No	ClinGen TOPMed gnomAD
rs375593512 CA257170246	489	A>S		No	ClinGen ESP TOPMed gnomAD
rs1293873622 CA388821159	490	F>I		No	ClinGen gnomAD
rs1594583893 CA388821188	491	S>C		No	ClinGen Ensembl
rs369108436 CA7066359	492	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs189272368 CA7066360	493	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1051067234 CA257170311	494	K>E		No	ClinGen TOPMed
rs753224951 CA7066362	494	K>R		No	ClinGen ExAC gnomAD
CA7066363 rs756723445	496	V>M		No	ClinGen ExAC gnomAD
rs1485502084 CA388821267	499	D>E		No	ClinGen TOPMed gnomAD
CA388821264 rs1364909583	499	D>V		No	ClinGen TOPMed
rs1222572815 CA388821321	503	T>K		No	ClinGen TOPMed
CA388821311 rs1268932375	503	T>P		No	ClinGen TOPMed
rs1179741805	503	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257170334 rs537050332	504	E>K		No	ClinGen 1000Genomes
TCGA novel	505	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445028999 CA388821378	508	E>*		No	ClinGen gnomAD
CA388821376 rs1445028999	508	E>Q		No	ClinGen gnomAD
CA257170354 rs868595235	510	A>V		No	ClinGen Ensembl
CA388821448 rs1162495527	513	N>S		No	ClinGen gnomAD
rs771561763 CA7066366 VAR_008287	514	C>S		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs771561763 CA388821462	514	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA257170357 rs973583215	515	P>H		No	ClinGen TOPMed gnomAD
CA388821486 rs1453652747	516	I>V		No	ClinGen TOPMed gnomAD
rs1027802903 CA257170366	517	P>L		No	ClinGen Ensembl
CA388821500 rs1287641131	517	P>S		No	ClinGen TOPMed gnomAD
rs1381712393 CA388821509	518	W>R		No	ClinGen gnomAD
CA388821538 rs1453875527	520	E>*		No	ClinGen TOPMed gnomAD
CA388821534 rs1453875527	520	E>K		No	ClinGen TOPMed gnomAD
VAR_008288 rs779749742 CA7066367	522	M>T		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA388821590 rs867427547	523	I>M		No	ClinGen TOPMed gnomAD
rs1380826075 CA388821585	523	I>N		No	ClinGen gnomAD
CA7066368 rs746695317	524	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7066369 rs768186756	525	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1260623023 CA388821667	529	G>D		No	ClinGen TOPMed
CA388821677 rs977390873	530	E>*		No	ClinGen TOPMed gnomAD
CA257170421 rs977390873	530	E>K		No	ClinGen TOPMed gnomAD
rs769744545 CA7066372	531	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1177481878 CA388821715	533	V>L		No	ClinGen TOPMed gnomAD
rs1177481878 CA388821714	533	V>M		No	ClinGen TOPMed gnomAD
rs536303626 CA257170446	534	W>R		No	ClinGen TOPMed gnomAD
rs1416791431 CA388821745	535	R>C		No	ClinGen TOPMed gnomAD
rs1030903666 CA257170452	535	R>H		No	ClinGen TOPMed gnomAD
VAR_008289 rs553969577 CA7066375	536	S>L		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1183668393 CA388821770	537	D>N		No	ClinGen TOPMed gnomAD
rs189451166 CA388821784	538	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420748727 CA388821786	538	G>D		No	ClinGen TOPMed
rs189451166 CA7066378	538	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7066379 rs767666496	539	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA257170507 rs953215841	540	M>L		No	ClinGen TOPMed
rs1280364511 CA388821819	541	P>A		No	ClinGen gnomAD
CA257170509 rs746695253	541	P>L		No	ClinGen TOPMed gnomAD
CA7066381 rs756636505	543	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1203031600 CA388821877	545	K>E		No	ClinGen TOPMed gnomAD
CA257170531 rs576531462	548	S>T		No	ClinGen TOPMed gnomAD
rs778431443 CA7066382 CA388821927	549	G>R		No	ClinGen ExAC TOPMed gnomAD
CA388821943 rs1468113387	550	G>A		No	ClinGen gnomAD
rs1468113387 CA388821945	550	G>D		No	ClinGen gnomAD
CA7066383 rs754373105	552	S>R		No	ClinGen ExAC TOPMed gnomAD
CA388821971 rs1429427293	553	S>T		No	ClinGen gnomAD
CA257170557 rs972297289	554	S>L		No	ClinGen TOPMed gnomAD
rs1427558124 CA388822007	555	S>F		No	ClinGen gnomAD
rs930629665 CA257170567	556	K>R		No	ClinGen TOPMed
CA257170578 rs1014900000	559	M>V		No	ClinGen gnomAD
rs1329737643 CA388822102	560	C>W		No	ClinGen gnomAD
CA257170580 rs898100502	562	V>I		No	ClinGen gnomAD
rs1440348478 CA388822137	563	S>Y		No	ClinGen TOPMed gnomAD
rs1305031261 CA388822149	564	S>K		No	ClinGen gnomAD
CA388822152 rs1305031261	564	S>Q		No	ClinGen gnomAD
CA388822158 rs1346292099 CA388822157	564	S>Y		No	ClinGen gnomAD

1 associated diseases with Q15835

[MIM: 613411]: Night blindness, congenital stationary, Oguchi type 2 (CSNBO2)

A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269|PubMed:17070587, ECO:0000269|PubMed:9020843}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269|PubMed:17070587, ECO:0000269|PubMed:9020843}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q15835

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	72 - 369	IPR000719
active_site	Serine/threonine-protein kinase, active site	190 - 202	IPR008271
binding_site	Protein kinase, ATP binding site	78 - 101	IPR017441

Functions

		Description
EC Number	2.7.11.14	Protein-serine/threonine kinases
Subcellular Localization	Membrane ; Lipid-anchor Cell projection, cilium, photoreceptor outer segment	Subcellular location is not affected by light or dark conditions
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
photoreceptor disc membrane	Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane.

3 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
rhodopsin kinase activity	Catalysis of the reaction: ATP + rhodopsin = ADP + phosphorhodopsin.

7 GO annotations of biological process

Name	Definition
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of G protein-coupled receptor signaling pathway	Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway.
regulation of rhodopsin mediated signaling pathway	Any process that modulates the frequency, rate or extent of rhodopsin-mediated signaling.
regulation of signal transduction	Any process that modulates the frequency, rate or extent of signal transduction.
rhodopsin mediated signaling pathway	A G protein-coupled receptor signaling pathway initiated by the excitation of rhodopsin by a photon, and ending with the regulation of a downstream cellular process.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P26818	GRK3	Beta-adrenergic receptor kinase 2	Bos taurus (Bovine)	PR
P43249	GRK5	G protein-coupled receptor kinase 5	Bos taurus (Bovine)	SS
P21146	GRK2	Beta-adrenergic receptor kinase 1	Bos taurus (Bovine)	PR
P32865	Gprk1	G protein-coupled receptor kinase 1	Drosophila melanogaster (Fruit fly)	PR
P25098	GRK2	Beta-adrenergic receptor kinase 1	Homo sapiens (Human)	PR
P34947	GRK5	G protein-coupled receptor kinase 5	Homo sapiens (Human)	EV
P35626	GRK3	Beta-adrenergic receptor kinase 2	Homo sapiens (Human)	PR
Q96LW2	RSKR	Ribosomal protein S6 kinase-related protein	Homo sapiens (Human)	PR
P32298	GRK4	G protein-coupled receptor kinase 4	Homo sapiens (Human)	SS
P43250	GRK6	G protein-coupled receptor kinase 6	Homo sapiens (Human)	EV
O70293	Grk6	G protein-coupled receptor kinase 6	Mus musculus (Mouse)	SS
Q8VEB1	Grk5	G protein-coupled receptor kinase 5	Mus musculus (Mouse)	SS
Q99MK8	Grk2	Beta-adrenergic receptor kinase 1	Mus musculus (Mouse)	PR
Q3UYH7	Adrbk2	Beta-adrenergic receptor kinase 2	Mus musculus (Mouse)	PR
Q9WVL4	Grk1	Rhodopsin kinase GRK1	Mus musculus (Mouse)	PR
Q62833	Grk5	G protein-coupled receptor kinase 5	Rattus norvegicus (Rat)	SS
P26817	Grk2	Beta-adrenergic receptor kinase 1	Rattus norvegicus (Rat)	PR
P97711	Grk6	G protein-coupled receptor kinase 6	Rattus norvegicus (Rat)	SS
Q09639	grk-2	G protein-coupled receptor kinase 2	Caenorhabditis elegans	PR
O48963	PHOT1	Phototropin-1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDFGSLETVV	ANSAFIAARG	SFDGSSSQPS	RDKKYLAKLK	LPPLSKCESL	RDSLSLEFES
70	80	90	100	110	120
VCLEQPIGKK	LFQQFLQSAE	KHLPALELWK	DIEDYDTADN	DLQPQKAQTI	LAQYLDPQAK
130	140	150	160	170	180
LFCSFLDEGI	VAKFKEGPVE	IQDGLFQPLL	QATLAHLGQA	PFQEYLGSLY	FLRFLQWKWL
190	200	210	220	230	240
EAQPMGEDWF	LDFRVLGKGG	FGEVSACQMK	ATGKLYACKK	LNKKRLKKRK	GYQGAMVEKK
250	260	270	280	290	300
ILMKVHSRFI	VSLAYAFETK	ADLCLVMTIM	NGGDIRYHIY	NVNEENPGFP	EPRALFYTAQ
310	320	330	340	350	360
IICGLEHLHQ	RRIVYRDLKP	ENVLLDNDGN	VRISDLGLAV	ELLDGQSKTK	GYAGTPGFMA
370	380	390	400	410	420
PELLQGEEYD	FSVDYFALGV	TLYEMIAARG	PFRARGEKVE	NKELKHRIIS	EPVKYPDKFS
430	440	450	460	470	480
QASKDFCEAL	LEKDPEKRLG	FRDETCDKLR	AHPLFKDLNW	RQLEAGMLMP	PFIPDSKTVY
490	500	510	520	530	540
AKDIQDVGAF	STVKGVAFDK	TDTEFFQEFA	TGNCPIPWQE	EMIETGIFGE	LNVWRSDGQM
550	560
PDDMKGISGG	SSSSSKSGMC	LVS