AiPD: Autoinhibited Protein Database

Q14161

Gene name	GIT2 (KIAA0148)
Protein name	ARF GTPase-activating protein GIT2
Names	ARF GAP GIT2 , Cool-interacting tyrosine-phosphorylated protein 2 , CAT-2 , CAT2 , G protein-coupled receptor kinase-interactor 2 , GRK-interacting protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9815
EC number
Protein Class

Descriptions

G-protein coupled receptor kinase-interacting protein (GIT, p95-APP1) proteins include an N-terminal Arf GTPase-activating protein domain (Arf-GAP domain), three ankyrin repeats, a Spa2-homology domain (SHD), a coiled-coil domain including a leucine zipper required for dimerization, and a paxillin-binding site (PBS). To autoinhibit the C-terminal domain, the N-terminal GAP domain (1-124) interacts with the C-terminal domain. In addition, the interaction between the ankyrin repeats and SHD domain is probably the main intramolecular interface to keep the inactive conformation (GAP-C terminal domain interaction) of p95-APP1. Therefore, the SHD domain is essential in mediating the intramolecular interactions between the C-terminal half of GIT1 and the N-terminal part including GAP domain and ankyrin repeats.

Autoinhibitory domains (AIDs)

1-228 (N-terminal part including GAP domain and ankyrin repeats) SS

Target domain	259-349 (C-terminal SHD domain)
Relief mechanism	Partner binding, PTM
Assay

AID

1-228 (N-terminal part including GAP domain and ankyrin repeats)

Target domain

259-349 (C-terminal SHD domain)

Relief mechanism

Partner binding (Binding of paxillin and liprin-α to PBS domain), PTM (Phosphorylation at Ser-709 within PBS domain)

Assay

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

Totaro A et al. (2007) "Identification of an intramolecular interaction important for the regulation of GIT1 functions", Molecular biology of the cell, 18, 5124-38

Di Cesare A et al. (2000) "p95-APP1 links membrane transport to Rac-mediated reorganization of actin", Nature cell biology, 2, 521-30

Autoinhibited structure

Activated structure

1 structures for Q14161

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14161-F1	Predicted				AlphaFoldDB

489 variants for Q14161

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA386655966 rs1380827522	2	S>L		No	ClinGen TOPMed
CA386655948 rs1449164125	4	R>Q		No	ClinGen TOPMed
rs974819421 CA243478224	4	R>W		No	ClinGen Ensembl
rs1310071512 CA386655939	5	L>P		No	ClinGen TOPMed
rs1312965247 CA386655933	6	R>Q		No	ClinGen gnomAD
rs747587627 CA6782220	6	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1377901258 CA386655885	11	C>F		No	ClinGen gnomAD
CA386655875 rs1444105226	12	A>V		No	ClinGen gnomAD
rs1352605587 CA386655848	16	G>W		No	ClinGen gnomAD
rs758994044 CA6782202	18	D>G		No	ClinGen ExAC gnomAD
rs1362894472 CA386655800	21	W>C		No	ClinGen Ensembl
CA6782200 rs770508761	25	N>S		No	ClinGen ExAC gnomAD
TCGA novel	27	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM934900 CA6782199 COSM1586167 rs748964121	28	T>M	Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA386655742 rs1452428901	30	L>F		No	ClinGen TOPMed
TCGA novel	30	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs566314773 CA6782197	32	D>G		No	ClinGen 1000Genomes ExAC
CA386655721 rs1213774699	33	E>G		No	ClinGen gnomAD
CA386655697 rs1373388933	36	S>I		No	ClinGen TOPMed
rs1170274739 CA386655699	36	S>R		No	ClinGen TOPMed
rs748658596 CA6782196	39	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA386655677 rs1279664612	39	R>W		No	ClinGen TOPMed gnomAD
rs1440996987 CA386655655	43	R>C		No	ClinGen TOPMed
TCGA novel	43	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386655650 rs1281281771	43	R>L		No	ClinGen gnomAD
rs755564997 CA6782194	44	H>Q		No	ClinGen ExAC gnomAD
CA6782193 rs747018566	45	I>V		No	ClinGen ExAC gnomAD
rs750658561 CA6782190	55	P>L		No	ClinGen ExAC gnomAD
rs1471154379 CA386655573	55	P>S		No	ClinGen gnomAD
rs755822981 CA6782188	57	P>A		No	ClinGen ExAC TOPMed gnomAD
CA386655560 rs755822981	57	P>S		No	ClinGen ExAC TOPMed gnomAD
rs201015987 CA6782186	59	T>A		No	ClinGen ExAC TOPMed gnomAD
rs201015987 CA386655548	59	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1315090330 CA386679004	63	M>V		No	ClinGen gnomAD
rs781035086 CA6782164	64	V>I		No	ClinGen ExAC gnomAD
CA6782163 rs754899990	65	E>D		No	ClinGen ExAC gnomAD
CA243529033 rs1007625947	65	E>Q		No	ClinGen TOPMed
rs1335719856 CA386678983	66	T>S		No	ClinGen gnomAD
rs1399150292 CA386678963	69	N>D		No	ClinGen TOPMed gnomAD
rs1055314397 CA243529025	69	N>T		No	ClinGen Ensembl
rs765883365 CA386678949	71	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6782161 rs765883365	71	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1165526620 CA386678944	72	A>T		No	ClinGen gnomAD
rs1211364955 CA386678930	74	S>T		No	ClinGen TOPMed
CA386678924 rs1421376557	75	I>L		No	ClinGen gnomAD
rs749972562 CA6782159	75	I>M		No	ClinGen ExAC gnomAD
rs764739299 CA6782158	77	E>D		No	ClinGen ExAC gnomAD
CA386678846 rs941723847 CA243528982	80	L>F		No	ClinGen TOPMed gnomAD
rs1566021584 CA386678816	83	P>L		No	ClinGen Ensembl
rs138452227 CA243528980	83	P>S		No	ClinGen ESP TOPMed gnomAD
rs907541844 CA243528976	84	A>T		No	ClinGen Ensembl
rs761624188 CA6782157	84	A>V		No	ClinGen ExAC TOPMed gnomAD
CA243528963 rs983481505	85	S>Y		No	ClinGen TOPMed
rs761231664 CA6782154	86	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6782153 rs776096824	87	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1402036402 CA386678791	88	S>G		No	ClinGen TOPMed
rs954477305 CA243528953	88	S>I		No	ClinGen TOPMed
rs954477305 CA386678788	88	S>N		No	ClinGen TOPMed
CA386678770 rs1239238094	91	R>C		No	ClinGen gnomAD
CA386678769 rs1337166297	91	R>H		No	ClinGen gnomAD
CA386678767 rs1337166297	91	R>L		No	ClinGen gnomAD
rs772653544 CA6782152	93	A>S		No	ClinGen ExAC gnomAD
rs745873970 CA6782151	94	N>Y		No	ClinGen ExAC gnomAD
rs1366703648 CA386678723	98	K>E		No	ClinGen gnomAD
CA6782150 rs779052104	99	V>I		No	ClinGen ExAC TOPMed gnomAD
CA386678679 rs1465475432	102	N>K		No	ClinGen TOPMed
rs779904959 CA6782122	102	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs112218265 CA6782120	104	A>E		No	ClinGen ExAC gnomAD
rs758253720 CA6782121	104	A>T		No	ClinGen ExAC TOPMed gnomAD
rs112218265 CA243528480	104	A>V		No	ClinGen ExAC gnomAD
CA386678664 rs1566020181	105	E>A		No	ClinGen Ensembl
CA386678667 rs1246072432	105	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386678652 rs1226296586	106	F>L		No	ClinGen gnomAD
rs1448298275 CA386678630	110	K>E		No	ClinGen gnomAD
rs763779421 CA6782116	112	Q>R		No	ClinGen ExAC gnomAD
CA386678605 rs1323816937	113	M>K		No	ClinGen gnomAD
rs755828002 CA6782115	115	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371458058 CA6782112	117	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA386678571 rs1432969804	118	H>R		No	ClinGen gnomAD
rs774964809 CA6782111	119	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766905782 CA6782110	119	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA386678556 rs1453563182	120	L>F		No	ClinGen gnomAD
CA6782107 rs769937855	123	R>Q		No	ClinGen ExAC gnomAD
CA6782108 rs773295040	123	R>W		No	ClinGen ExAC gnomAD
rs74383362 CA6782105	124	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6782104 rs771942558	125	D>Y		No	ClinGen ExAC gnomAD
rs757271786 CA6782101	126	D>G		No	ClinGen ExAC gnomAD
CA6782102 rs757271786	126	D>V		No	ClinGen ExAC gnomAD
rs777488170 CA6782098	128	V>A		No	ClinGen ExAC gnomAD
CA386678504 rs1442272008	129	T>A		No	ClinGen TOPMed gnomAD
rs1216776873 CA386678483	132	D>N		No	ClinGen gnomAD
CA386678480 rs1338019332	132	D>V		No	ClinGen gnomAD
CA243528361 rs887714461	133	L>P		No	ClinGen TOPMed
CA6782096 rs752447088	134	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1385230262 CA386678459	135	K>N		No	ClinGen gnomAD
TCGA novel	136	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782070 rs778332430	139	S>L		No	ClinGen ExAC TOPMed gnomAD
COSM934899 CA243524933 rs896776603 COSM1586168	141	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA386677222 rs1304619206	143	T>A		No	ClinGen TOPMed
rs1291579665 CA386677140	151	R>T		No	ClinGen gnomAD
rs375355584 CA6782062	155	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs764306054 CA6782063	155	L>S		No	ClinGen ExAC TOPMed gnomAD
rs774272674 CA6782061	159	A>G		No	ClinGen ExAC gnomAD
CA243524904 rs774272674	159	A>V		No	ClinGen ExAC gnomAD
COSM3739420 rs770894894 CA6782060 COSM3739421	160	N>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1225256260 CA386677007	161	F>L		No	ClinGen gnomAD
CA6782059 rs762956563	162	F>L		No	ClinGen ExAC gnomAD
CA6782058 rs773246310	162	F>Y		No	ClinGen ExAC gnomAD
rs1284069277 CA386676982	163	H>R		No	ClinGen TOPMed
rs1405409408 CA386676966	164	P>L		No	ClinGen gnomAD
CA6782042 rs753012017	167	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6782041 rs767885903	171	L>F		No	ClinGen ExAC gnomAD
CA6782040 rs762792532	174	A>P		No	ClinGen ExAC gnomAD
TCGA novel	175	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6782039 rs773158378	176	K>E		No	ClinGen ExAC gnomAD
rs191870381 CA6782036	187	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1337778632 CA386676695	189	Y>*		No	ClinGen gnomAD
rs77372858 CA243524748	190	G>*		No	ClinGen Ensembl
rs768101483 CA6782035	194	G>D		No	ClinGen ExAC gnomAD
CA386676663 rs1566009543	195	T>A		No	ClinGen Ensembl
COSM1208209 rs746551713 COSM1208208 CA6782034	196	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1262048274 CA386676610	202	T>I		No	ClinGen gnomAD
CA243524722 rs746163344	203	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1239061632 CA386676606	203	P>L		No	ClinGen gnomAD
rs746163344 CA6782031	203	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749805369 CA6782028	204	V>A		No	ClinGen ExAC gnomAD
CA6782029 rs757765366	204	V>I		No	ClinGen ExAC TOPMed gnomAD
rs897575741 CA243524689	205	D>H		No	ClinGen TOPMed gnomAD
rs1480905732 CA386676562	208	R>S		No	ClinGen gnomAD
CA386676552 rs1593122950	210	G>R		No	ClinGen Ensembl
CA243523245 rs994278754	212	H>R		No	ClinGen Ensembl
TCGA novel	214	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386676505 rs1276743549	217	E>K		No	ClinGen gnomAD
CA6782008 rs756706235	217	E>V		No	ClinGen ExAC
TCGA novel	218	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866450668 CA243523234	220	V>L		No	ClinGen gnomAD
rs866450668 CA386676487	220	V>M		No	ClinGen gnomAD
rs1366402644 CA386676483	221	E>K		No	ClinGen TOPMed
CA6782006 rs781489292	223	Q>*		No	ClinGen ExAC gnomAD
CA6782005 rs755237336	223	Q>R		No	ClinGen ExAC gnomAD
CA6782003 rs765051024	224	Y>C		No	ClinGen ExAC gnomAD
CA6782002 rs199630510	227	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA243523209 rs1044680479	229	R>G		No	ClinGen TOPMed gnomAD
rs763952705 CA6782000	231	A>T		No	ClinGen ExAC gnomAD
rs1165585974 CA386676411	232	F>L		No	ClinGen gnomAD
rs774964282 CA6781998	233	Y>C		No	ClinGen ExAC gnomAD
CA386676338 rs950009801	238	K>E		No	ClinGen TOPMed gnomAD
CA243523166 rs950009801	238	K>Q		No	ClinGen TOPMed gnomAD
CA386676332 rs1419528362	238	K>T		No	ClinGen TOPMed gnomAD
rs1566004811 CA386676320	239	P>S		No	ClinGen Ensembl
CA243512915 rs543737456	240	D>A		No	ClinGen gnomAD
CA386674108 rs543737456	240	D>V		No	ClinGen gnomAD
CA243512907 rs779573904	241	H>Q		No	ClinGen Ensembl
CA386674095 rs1449440947	242	K>R		No	ClinGen gnomAD
rs1266212932 CA386674079	244	G>E		No	ClinGen gnomAD
rs752871684 CA243512902	246	H>L		No	ClinGen Ensembl
TCGA novel	249	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386674042 rs1263335626	249	I>T		No	ClinGen TOPMed gnomAD
CA6781980 rs767470124	250	P>S		No	ClinGen ExAC gnomAD
CA6781979 rs758924852	251	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	252	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228218954 CA386673990	252	M>T		No	ClinGen gnomAD
CA6781978 rs199584208	255	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386673235 rs1359949160	256	S>R		No	ClinGen TOPMed
rs552138331 CA6781917	265	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA386671990 rs1230156194	266	A>P		No	ClinGen TOPMed
CA386671979 rs1489539713	267	K>N		No	ClinGen gnomAD
rs1221027433 CA386671954	271	Q>E		No	ClinGen gnomAD
rs753581718 CA386671951	271	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs753581718 CA6781915	271	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6781899 rs538558561	273	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA386671779 rs1404801408	274	S>N		No	ClinGen TOPMed
rs1365470353 CA386671765	275	N>H		No	ClinGen TOPMed gnomAD
rs1299440804 CA386671688	279	E>D		No	ClinGen gnomAD
rs1432465506 CA386671673	280	E>D		No	ClinGen gnomAD
rs1388281497 CA386671672	281	L>I		No	ClinGen gnomAD
CA386671650 rs1347089203	282	A>V		No	ClinGen TOPMed
CA6781897 rs777423599	283	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6781896 rs17849472	285	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs753103354 CA6781895	286	Y>H		No	ClinGen ExAC gnomAD
rs1454932702 CA386671574	287	D>G		No	ClinGen TOPMed
rs746588594 CA243508169	287	D>N		No	ClinGen gnomAD
rs1227142369 CA386671499	292	R>*		No	ClinGen TOPMed
CA6781893 rs555928070	292	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6781892 rs752105970	293	E>G		No	ClinGen ExAC gnomAD
rs766903672 CA6781891	294	T>M		No	ClinGen ExAC gnomAD
rs1308488512 CA386671454	295	D>E		No	ClinGen TOPMed
TCGA novel	296	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386670594 rs1253834507	298	W>*		No	ClinGen gnomAD
rs909019094 CA243507843	301	T>M		No	ClinGen gnomAD
rs1048998392 CA243507832	303	N>D		No	ClinGen Ensembl
CA386670484 rs145311100	306	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs145311100 CA6781870	306	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs979308007 CA243507781	308	V>L		No	ClinGen TOPMed gnomAD
rs764433856 CA6781867	312	T>A		No	ClinGen ExAC gnomAD
rs1352887752 CA386670401	312	T>M		No	ClinGen gnomAD
CA386670381 rs1391717144	314	V>I		No	ClinGen gnomAD
rs772757826 CA6781862	315	P>L		No	ClinGen ExAC gnomAD
CA6781861 rs188922245	318	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6781857 rs747309666	320	N>S		No	ClinGen ExAC TOPMed gnomAD
rs780466528 CA6781856	321	P>S		No	ClinGen ExAC gnomAD
rs1434459060 CA386670226	322	E>D		No	ClinGen Ensembl
CA386670152 rs1211193373	327	R>*		No	ClinGen gnomAD
rs746398874 CA6781854 COSM200841	327	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	332	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	336	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs9804905 VAR_048324 RCV000957118 CA6781836	338	N>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757786008 CA6781834	339	A>T	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1358646788 CA386669706	343	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	343	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6781833 rs749372501	344	T>M		No	ClinGen ExAC gnomAD
rs756385097 CA6781832	346	V>F		No	ClinGen ExAC gnomAD
rs756385097 CA6781831	346	V>I		No	ClinGen ExAC gnomAD
CA386669613 rs1315994733	347	I>T		No	ClinGen TOPMed gnomAD
CA6781828 rs758079908	351	S>N		No	ClinGen ExAC gnomAD
rs867684641 COSM1586173 CA243506718 COSM934891	353	A>T	endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6781826 rs765021664	359	G>D		No	ClinGen ExAC gnomAD
rs143933367 CA6781825	360	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386669350 rs1246525046	362	L>V		No	ClinGen gnomAD
rs763631836 CA6781823	363	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6781821 rs775070698	364	G>D		No	ClinGen ExAC gnomAD
rs1369619593 CA386669328	364	G>S		No	ClinGen TOPMed
rs1347174960 CA386669292	366	K>R		No	ClinGen gnomAD
rs895368648 CA243495947	368	N>H		No	ClinGen Ensembl
rs753731360 CA6781807	368	N>S		No	ClinGen ExAC gnomAD
CA386666895 rs1252565930	370	E>K		No	ClinGen gnomAD
rs760116107 CA6781805	373	L>R		No	ClinGen ExAC TOPMed gnomAD
CA386666769 rs1272644460	375	T>A		No	ClinGen gnomAD
rs1213759192 CA386666760	375	T>S		No	ClinGen gnomAD
rs372967456 CA6781804	377	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA386666671 rs1285764659 CA386666673	378	N>K		No	ClinGen gnomAD
CA386666633 rs1565955382	380	H>R		No	ClinGen Ensembl
CA386666636 rs1354798778	380	H>Y		No	ClinGen gnomAD
rs1264967379 CA386666615	381	S>R		No	ClinGen TOPMed
CA386666604 rs1565955305	382	V>A		No	ClinGen Ensembl
CA6781801 rs560157222	382	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560157222 CA243495922	382	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_024368 rs925368 CA6781800	387	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386666501 rs1416353680	388	D>G		No	ClinGen gnomAD
rs79037701 CA6781798	388	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146182658 CA6781796	391	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6781794 COSM1677335 COSM1677334 rs574527062	395	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1171487975 CA386666281	396	A>T		No	ClinGen TOPMed
rs747307889 CA6781793	398	D>G		No	ClinGen ExAC gnomAD
CA386666190 rs1308377200	399	E>K		No	ClinGen TOPMed
CA6781790 rs749091409	403	L>S		No	ClinGen ExAC gnomAD
rs1334067007 CA386666009	405	T>I		No	ClinGen gnomAD
CA386666018 rs1334067007	405	T>N		No	ClinGen gnomAD
rs752135586 CA6781787	408	S>N		No	ClinGen ExAC gnomAD
CA243495869 rs547422898	410	T>K		No	ClinGen Ensembl
rs1436686739 CA386665885	412	R>Q		No	ClinGen TOPMed gnomAD
CA6781785 rs143551429	412	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	414	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353272592 CA386665764	415	S>R		No	ClinGen TOPMed
CA243494280 rs964363021	416	L>Q		No	ClinGen Ensembl
CA386665743 rs1209580645	419	D>H		No	ClinGen gnomAD
rs754154174 CA6781740	421	S>*		No	ClinGen ExAC gnomAD
CA386665719 rs1369747626	422	D>V		No	ClinGen TOPMed
rs1224807584 CA386665691	427	V>L		No	ClinGen gnomAD
rs1307214615 CA386665680	428	Q>H		No	ClinGen gnomAD
CA6781738 rs34172917	430	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752751962 CA6781737	431	M>V		No	ClinGen ExAC gnomAD
rs376273833 CA243494240	434	K>R		No	ClinGen ESP gnomAD
rs868412215 CA243494215	436	A>T		No	ClinGen gnomAD
rs774510245 CA6781734	436	A>V		No	ClinGen ExAC gnomAD
rs148329280 CA386665549	438	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148329280 CA6781732	438	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA386665535 rs1476128970	439	A>V		No	ClinGen TOPMed gnomAD
CA6781731 rs776357388	440	S>F		No	ClinGen ExAC gnomAD
CA386665519 rs1472599133	441	E>*		No	ClinGen gnomAD
CA386665492 rs1286722287	443	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	447	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386665374 rs1592996036	450	V>G		No	ClinGen Ensembl
rs143307103 CA6781729	453	N>D		No	ClinGen ESP ExAC gnomAD
rs896422621 CA243494171	456	D>V		No	ClinGen Ensembl
rs369598585 CA6781728	457	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6781726 rs745381147	461	M>L		No	ClinGen ExAC gnomAD
CA386665260 rs1333335870	461	M>T		No	ClinGen gnomAD
CA243494159 rs1002187561	462	Q>K		No	ClinGen TOPMed gnomAD
rs778639793 CA6781725	463	K>E		No	ClinGen ExAC TOPMed gnomAD
CA243491342 rs929589817	467	T>I		No	ClinGen Ensembl
rs765522763 CA6781693	469	Q>R		No	ClinGen ExAC gnomAD
rs1394142012 CA386663488	470	S>G		No	ClinGen gnomAD
rs767544250 CA6781691 COSM275293	473	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767544250 CA6781690	473	S>W		No	ClinGen ExAC gnomAD
CA386663458 rs1592983119	474	N>T		No	ClinGen Ensembl
CA6781687 rs770306954	479	A>D		No	ClinGen ExAC gnomAD
rs753543175 CA6781688	479	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	480	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748850717 CA6781686	482	N>K		No	ClinGen ExAC gnomAD
CA6781685 rs772681163	484	Y>H		No	ClinGen ExAC gnomAD
rs1485462505 CA386663374	486	V>G		No	ClinGen gnomAD
rs769441398 CA6781684	489	G>R		No	ClinGen ExAC gnomAD
TCGA novel	490	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386663348 rs1216566486 COSM3931502	491	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6781683 rs748509869	493	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	493	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268233291 CA386663323	494	D>G		No	ClinGen gnomAD
TCGA novel	494	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356067846 CA386663300	497	N>K		No	ClinGen gnomAD
CA386663287 rs1304035926	499	S>C		No	ClinGen TOPMed
CA386663273 rs1395027452	501	L>F		No	ClinGen TOPMed
rs1314147946 CA386663265	502	K>N		No	ClinGen gnomAD
COSM216238 CA243491285 rs866015128	504	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6781681 rs574429341	504	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1374335817 CA386663248	505	P>L		No	ClinGen TOPMed gnomAD
CA386663238 rs1411330651	507	A>V		No	ClinGen gnomAD
CA6781676 rs149158681	508	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs149158681 CA6781677	508	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs376799498 CA6781678	508	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs757609057 CA6781675	509	G>D		No	ClinGen ExAC
TCGA novel	510	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373898511 CA6781671	513	M>I		No	ClinGen ESP ExAC gnomAD
rs759433893 CA6781672	513	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6781673 rs759433893	513	M>V		No	ClinGen ExAC TOPMed gnomAD
rs145219756 CA6781670	515	M>T		No	ClinGen ESP ExAC gnomAD
CA386663170 rs1206845713	518	T>A		No	ClinGen TOPMed gnomAD
CA6781667 rs769425001	519	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761503922 CA6781666	524	P>L		No	ClinGen ExAC gnomAD
TCGA novel	525	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs185965842 CA6781664	527	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386663086 rs1592982618	528	M>R		No	ClinGen Ensembl
rs747426594 CA6781663	531	A>T		No	ClinGen ExAC TOPMed gnomAD
CA386663040 rs1178882459 COSM934890	531	A>V	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs141445884 CA6781662	532	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3416467 CA386663021 rs772698569	533	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6781660 rs745918777	533	R>H		No	ClinGen ExAC gnomAD
rs772698569 CA6781661	533	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6781658 rs757519589	535	E>A		No	ClinGen ExAC gnomAD
CA386663003 rs1328591514	535	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386662976 rs1397164295	536	E>D		No	ClinGen gnomAD
rs1049248637 CA243491178	536	E>K		No	ClinGen Ensembl
rs1408750982 CA386662902	541	L>R		No	ClinGen gnomAD
CA6781655 rs754671426	542	Q>H		No	ClinGen ExAC gnomAD
rs767458730 CA243491155	543	P>L		No	ClinGen Ensembl
CA243491127 rs912237725	545	P>R		No	ClinGen Ensembl
rs369776805 CA6781654	545	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA243491119 rs953837964	546	A>T		No	ClinGen TOPMed
CA6781652 rs144433286	546	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA243489745 rs372157894	548	I>V		No	ClinGen ESP gnomAD
CA243489738 CA386662658 rs139549885	549	G>R		No	ClinGen ESP TOPMed gnomAD
rs11068997 CA6781633 VAR_048325	552	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386662576 rs1301665061	553	L>F		No	ClinGen gnomAD
CA243489714 rs765184633	553	L>H		No	ClinGen ExAC TOPMed gnomAD
CA6781631 rs765184633	553	L>R		No	ClinGen ExAC TOPMed gnomAD
CA6781630 rs756703594	556	S>F		No	ClinGen ExAC gnomAD
rs1291086423 CA386662505	557	S>F		No	ClinGen gnomAD
rs1426766005 CA386662462	559	S>F		No	ClinGen gnomAD
rs1344635119 CA386662447	560	L>P		No	ClinGen TOPMed gnomAD
rs775600396 CA243489697	560	L>V		No	ClinGen Ensembl
CA6781628 rs763719701	561	P>S		No	ClinGen ExAC gnomAD
CA386662399 rs1393572047	562	S>F		No	ClinGen gnomAD
CA6781626 rs775685023	563	F>S		No	ClinGen ExAC gnomAD
rs911789972 COSM223590 CA243489681	564	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	565	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386662315 rs1484868302	566	T>I		No	ClinGen TOPMed gnomAD
CA6781624 rs759839584	567	L>P		No	ClinGen ExAC gnomAD
rs773484065 CA6781621	568	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6781623 rs148427492	568	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs148427492 CA6781622	568	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1470504 rs773484065 CA6781620	568	S>Y	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1270487375 CA386662265	569	W>C		No	ClinGen TOPMed
CA386662289 rs1308406773	569	W>R		No	ClinGen gnomAD
CA6781619 rs370041129	570	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370041129 CA386662255	570	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	571	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6781617 rs201858644	573	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6781615 rs745681173	574	S>R		No	ClinGen ExAC TOPMed gnomAD
rs758166063 CA6781616	574	S>T		No	ClinGen ExAC gnomAD
CA6781614 rs778758972 COSM934889	575	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs375778147 CA6781612	576	R>*		No	ClinGen ESP ExAC gnomAD
rs763696895 CA6781611 COSM1358664	576	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA386660317 rs1252296482	578	A>T		No	ClinGen gnomAD
CA6781600 rs748201825	579	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	582	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768769762 CA6781598	582	E>K		No	ClinGen ExAC gnomAD
CA386660138 rs1333403159	586	S>G		No	ClinGen gnomAD
TCGA novel	588	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264910983 CA386660074	589	E>A		No	ClinGen TOPMed gnomAD
CA6781597 rs541055586	589	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs943706257 CA243484889	590	S>G		No	ClinGen TOPMed
CA6781594 rs749181313	593	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6781595 rs749181313	593	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755591689 CA6781592	594	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6781591 rs752151953	595	T>S		No	ClinGen ExAC gnomAD
rs1392282950 CA386659825	598	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751951114 CA6781588	599	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6781587 rs766891781	600	E>D		No	ClinGen ExAC gnomAD
rs1438716968 CA386659712	601	P>L		No	ClinGen gnomAD
rs147093442 CA6781586	601	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6781585 rs199600983	602	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1565934993 CA386659666	604	M>V		No	ClinGen Ensembl
TCGA novel	605	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386659423 rs1328174827	607	S>R		No	ClinGen gnomAD
rs753919574 CA6781565	608	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA243484181 rs757176450	611	R>Q		No	ClinGen TOPMed
CA6781564 rs764114845	611	R>W		No	ClinGen ExAC TOPMed gnomAD
rs767383918 CA6781562	614	S>N		No	ClinGen ExAC TOPMed gnomAD
rs767383918 CA6781561	614	S>T		No	ClinGen ExAC TOPMed gnomAD
CA6781560 rs369214509	617	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146186322 CA6781559	618	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014085647 CA243484145	619	G>R		No	ClinGen Ensembl
rs769749273 CA6781558	620	D>N		No	ClinGen ExAC gnomAD
CA386659201 rs1371909907	621	G>V		No	ClinGen gnomAD
CA386659188 rs1592948533	623	V>G		No	ClinGen Ensembl
CA386659177 rs1301129051	625	D>A		No	ClinGen TOPMed
CA386659175 rs1301129051	625	D>V		No	ClinGen TOPMed
rs375151526 CA6781555	626	T>I		No	ClinGen ESP ExAC gnomAD
rs1057334750 CA243484122	629	P>S		No	ClinGen TOPMed
rs202120742 CA6781554	631	V>L		No	ClinGen ExAC gnomAD
CA386659140 rs202120742	631	V>M		No	ClinGen ExAC gnomAD
TCGA novel	635	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386659111 rs1198656522	635	P>R		No	ClinGen Ensembl
rs1592948401 CA386659114	635	P>S		No	ClinGen Ensembl
rs1341377436 CA386659106	636	T>N		No	ClinGen gnomAD
CA386659103 rs1565933571	637	L>F		No	ClinGen Ensembl
rs746234453 CA6781551	638	P>S		No	ClinGen ExAC gnomAD
CA6781550 rs373438493	640	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565933454 CA386659076	641	E>G		No	ClinGen Ensembl
CA6781548 rs754246516	641	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	642	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386658966 rs1411946171	651	T>S		No	ClinGen gnomAD
rs1398562076 CA386658953	652	K>E		No	ClinGen gnomAD
rs940809453 CA243484060	656	E>G		No	ClinGen Ensembl
CA243484050 rs978118318	658	L>V		No	ClinGen TOPMed
rs752839958 CA6781545	666	H>R		No	ClinGen ExAC gnomAD
CA386658664 rs1387294351	668	S>G		No	ClinGen gnomAD
rs751683768 CA6781525	671	P>A		No	ClinGen ExAC gnomAD
rs751683768 CA6781527	671	P>S		No	ClinGen ExAC gnomAD
rs751683768 CA6781526	671	P>T		No	ClinGen ExAC gnomAD
rs867608861 CA243480593	675	R>K		No	ClinGen Ensembl
rs1444912928 CA386657352	676	I>M		No	ClinGen gnomAD
rs766639068 CA6781524	677	H>Y		No	ClinGen ExAC gnomAD
rs146384144 COSM200839 CA6781522	678	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1248326973 CA386657318	679	A>D		No	ClinGen gnomAD
rs1219287655 CA386657292	681	T>I		No	ClinGen gnomAD
CA386657251 rs1393052706	684	A>T		No	ClinGen TOPMed
rs1450497747 CA386657241	685	A>T		No	ClinGen gnomAD
rs1592932237 CA386657188	689	K>Q		No	ClinGen Ensembl
CA386657073 rs1296385624	692	K>T		No	ClinGen gnomAD
rs770255193 CA6781511	695	M>I		No	ClinGen ExAC gnomAD
CA386657030 rs1189344671	695	M>T		No	ClinGen TOPMed gnomAD
rs1427045307 CA386657036	695	M>V		No	ClinGen gnomAD
CA6781510 rs748614133	697	R>T		No	ClinGen ExAC gnomAD
CA243479946 rs752551743	698	T>I		No	ClinGen gnomAD
CA386656968 rs1416804609	700	L>F		No	ClinGen TOPMed
CA6781506 rs780137647	701	R>G		No	ClinGen ExAC gnomAD
COSM1358662 CA6781504 rs753666949	701	R>H	Variant assessed as Somatic; 5.298e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6781505 rs753666949	701	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1219135109 CA386656923	703	L>R		No	ClinGen gnomAD
CA386656919 rs1363321396	704	T>A		No	ClinGen gnomAD
rs907384183 CA243479875	704	T>M		No	ClinGen TOPMed gnomAD
CA6781502 rs186643308	706	S>N		No	ClinGen 1000Genomes ExAC TOPMed
CA243479857 rs1012001100	708	Y>D		No	ClinGen gnomAD
rs1359925632 CA386656858	709	R>G		No	ClinGen TOPMed
CA6781501 rs752619910	709	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs894926967 CA243479838	711	Q>L		No	ClinGen Ensembl
CA386656814 rs1413833211	714	C>Y		No	ClinGen gnomAD
rs758962325 CA6781499	715	K>M		No	ClinGen ExAC gnomAD
rs1470578347 CA386656810	715	K>Q		No	ClinGen gnomAD
TCGA novel	716	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770460324 CA6781497	717	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6781496 rs762643976	720	G>R		No	ClinGen ExAC TOPMed gnomAD
rs772872967 CA6781495	721	D>N		No	ClinGen ExAC gnomAD
rs1484058233 CA386656764	722	P>S		No	ClinGen gnomAD
CA6781493 rs748515904	723	G>S		No	ClinGen ExAC TOPMed gnomAD
rs781492736 CA6781492	724	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA386656745 rs1260474911	725	P>L		No	ClinGen gnomAD
rs201742073 CA6781490	728	V>I		No	ClinGen ExAC TOPMed gnomAD
rs780219011 CA6781489	729	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs758667543 CA6781488	732	T>M		No	ClinGen ExAC gnomAD
CA386656684 rs1354903922	735	V>F		No	ClinGen TOPMed gnomAD
CA386656686 rs1354903922	735	V>I		No	ClinGen TOPMed gnomAD
rs1172685612 CA386656670	737	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779285843 CA6781486	738	C>Y		No	ClinGen ExAC gnomAD
rs755918306 CA6781485	739	A>T		No	ClinGen ExAC gnomAD
CA386656655 rs1165064238	739	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	741	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6781481 rs751012181	743	A>T		No	ClinGen ExAC gnomAD
CA6781480 rs765864824	745	A>S		No	ClinGen ExAC gnomAD
rs772784664 CA6781478	746	A>S		No	ClinGen ExAC gnomAD
CA6781477 rs769449306	752	I>T		No	ClinGen ExAC gnomAD
CA6781476 rs762150377	754	T>I		No	ClinGen ExAC TOPMed
rs1247152700 CA386656556	755	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1290466215 CA386656545	756	E>G		No	ClinGen TOPMed
rs1320012830 CA386656534	757	N>K		No	ClinGen gnomAD
TCGA novel	758	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243479659 rs557013337	758	N>K		No	ClinGen Ensembl
rs776196849	759	N>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q14161

6 regional properties for Q14161

Type	Name	Position	InterPro Accession
domain	Arf GTPase activating protein	1 - 124	IPR001164
repeat	Ankyrin repeat	132 - 228	IPR002110
domain	GIT, Spa2 homology (SHD) domain	266 - 296	IPR013724-1
domain	GIT, Spa2 homology (SHD) domain	330 - 360	IPR013724-2
domain	ARF GTPase-activating protein GIT1, C-terminal	641 - 753	IPR022018
domain	Arf GTPase-activating protein GIT1/2, coiled-coil domain	414 - 478	IPR032352

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
presynapse	The part of a synapse that is part of the presynaptic cell.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

3 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
metal ion binding	Binding to a metal ion.
small GTPase binding	Binding to a small monomeric GTPase.

4 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
regulation of ARF protein signal transduction	Any process that modulates the frequency, rate or extent of ARF protein signal transduction.
regulation of G protein-coupled receptor signaling pathway	Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway.
synaptic vesicle recycling	The trafficking of synaptic vesicles from the pre-synaptic membrane so the vesicle can dock and prime for another round of exocytosis and neurotransmitter release. Recycling occurs after synaptic vesicle exocytosis, and is necessary to replenish presynaptic vesicle pools, sustain transmitter release and preserve the structural integrity of the presynaptic membrane. Recycling can occur following transient fusion with the presynaptic membrane (kiss and run), or via endocytosis of presynaptic membrane.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DG15		p95-APP1	Gallus gallus (Chicken)	EV
Q95RG8	Git	ARF GTPase-activating protein Git	Drosophila melanogaster (Fruit fly)	SS
Q9Y2X7	GIT1	ARF GTPase-activating protein GIT1	Homo sapiens (Human)	SS
Q68FF6	Git1	ARF GTPase-activating protein GIT1	Mus musculus (Mouse)	SS
Q9JLQ2	Git2	ARF GTPase-activating protein GIT2	Mus musculus (Mouse)	SS
Q9Z272	Git1	ARF GTPase-activating protein GIT1	Rattus norvegicus (Rat)	SS
Q66H91	Git2	ARF GTPase-activating protein GIT2	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MSKRLRSSEV	CADCSGPDPS	WASVNRGTFL	CDECCSVHRS	LGRHISQVRH	LKHTPWPPTL
70	80	90	100	110	120
LQMVETLYNN	GANSIWEHSL	LDPASIMSGR	RKANPQDKVH	PNKAEFIRAK	YQMLAFVHRL
130	140	150	160	170	180
PCRDDDSVTA	KDLSKQLHSS	VRTGNLETCL	RLLSLGAQAN	FFHPEKGNTP	LHVASKAGQI
190	200	210	220	230	240
LQAELLAVYG	ADPGTQDSSG	KTPVDYARQG	GHHELAERLV	EIQYELTDRL	AFYLCGRKPD
250	260	270	280	290	300
HKNGQHFIIP	QMADSSLDLS	ELAKAAKKKL	QSLSNHLFEE	LAMDVYDEVD	RRETDAVWLA
310	320	330	340	350	360
TQNHSALVTE	TTVVPFLPVN	PEYSSTRNQG	RQKLARFNAH	EFATLVIDIL	SDAKRRQQGS
370	380	390	400	410	420
SLSGSKDNVE	LILKTINNQH	SVESQDNDQP	DYDSVASDED	TDLETTASKT	NRQKSLDSDL
430	440	450	460	470	480
SDGPVTVQEF	MEVKNALVAS	EAKIQQLMKV	NNNLSDELRI	MQKKLQTLQS	ENSNLRKQAT
490	500	510	520	530	540
TNVYQVQTGS	EYTDTSNHSS	LKRRPSARGS	RPMSMYETGS	GQKPYLPMGE	ASRPEESRMR
550	560	570	580	590	600
LQPFPAHIGR	SALVTSSSSL	PSFPSTLSWS	RDESARRASR	LEKQNSTPES	DYDNTPNDME
610	620	630	640	650	660
PDGMGSSRKG	RQRSMVWPGD	GLVPDTAEPH	VAPSPTLPST	EDVIRKTEQI	TKNIQELLRA
670	680	690	700	710	720
AQENKHDSYI	PCSERIHVAV	TEMAALFPKK	PKSDMVRTSL	RLLTSSAYRL	QSECKKTLPG
730	740	750
DPGSPTDVQL	VTQQVIQCAY	DIAKAAKQLV	TITTKENNN