AiPD: Autoinhibited Protein Database

Q12967

Gene name	RALGDS (KIAA1308, RGF)
Protein name	Ral guanine nucleotide dissociation stimulator
Names	RalGDS, Ral guanine nucleotide exchange factor, RalGEF
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5900
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

196-378 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

196-378 (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

5 structures for Q12967

Entry ID	Method	Resolution	Chain	Position	Source
1RAX	NMR	-	A	775-886	PDB
2B3A	NMR	-	A	798-884	PDB
2RGF	NMR	-	A	788-884	PDB
3KH0	X-ray	210 A	A/B	793-914	PDB
AF-Q12967-F1	Predicted				AlphaFoldDB

739 variants for Q12967

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA375393066 rs1316541972	3	Q>R		No	ClinGen gnomAD
CA375393040 rs1159362869	5	M>T		No	ClinGen TOPMed
rs1328709241 CA375393045	5	M>V		No	ClinGen gnomAD
CA375393012 rs1360068685	7	A>V		No	ClinGen TOPMed
TCGA novel	8	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375393000 rs1406408186	9	A>E		No	ClinGen TOPMed gnomAD
CA375392998 rs1406408186	9	A>V		No	ClinGen TOPMed gnomAD
rs1423527898 CA375392995	10	A>G		No	ClinGen gnomAD
CA5304831 rs751475868	10	A>S		No	ClinGen ExAC TOPMed gnomAD
CA375392997 rs751475868	10	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1423527898 CA375392993	10	A>V		No	ClinGen gnomAD
rs1179399566 CA375392991	11	G>R		No	ClinGen gnomAD
rs1440886232 CA375392986	12	P>T		No	ClinGen gnomAD
rs1008744949 CA200930195	13	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA200930194 rs892442376	14	G>A		No	ClinGen TOPMed
rs1348086267 CA375392969	15	G>S		No	ClinGen TOPMed
CA375392964 rs1229743797	15	G>V		No	ClinGen TOPMed
CA375392957 rs1176906450	17	E>K		No	ClinGen gnomAD
rs1176906450 CA375392956	17	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777637593 CA5304830	18	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1462801331 CA375392947	18	P>S		No	ClinGen gnomAD
CA375392940 rs1310147303	19	L>R		No	ClinGen TOPMed gnomAD
CA375392926 rs1286118136	21	P>L		No	ClinGen gnomAD
rs1240723285 CA375392922	22	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	23	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5304829 rs758298329	24	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1459486835 CA375392903	25	R>L		No	ClinGen TOPMed
TCGA novel	25	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375392882 rs1306414644	27	R>H		No	ClinGen gnomAD
CA375392868 rs1454178334	28	S>I		No	ClinGen TOPMed gnomAD
rs1379430911 CA375392865	28	S>R		No	ClinGen gnomAD
CA375392869 rs1454178334	28	S>T		No	ClinGen TOPMed gnomAD
rs752467408 CA200930188	31	D>G		No	ClinGen ExAC TOPMed gnomAD
CA375392835 rs1301843062	31	D>N		No	ClinGen gnomAD
rs752467408 CA5304828	31	D>V		No	ClinGen ExAC TOPMed gnomAD
CA375392820 rs1564245566	32	A>V		No	ClinGen Ensembl
rs1162531905 CA375392810	33	V>A		No	ClinGen TOPMed
rs904436978 CA200930187	33	V>L		No	ClinGen TOPMed
CA375392802 rs1161769270	34	R>C		No	ClinGen gnomAD
TCGA novel	35	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200930175 rs1043400392	36	E>K		No	ClinGen TOPMed gnomAD
CA375392767 rs1399409383	36	E>V		No	ClinGen TOPMed gnomAD
rs1176896879 CA375392733	39	V>I		No	ClinGen TOPMed gnomAD
CA200930174 rs948567891	40	P>S		No	ClinGen TOPMed
rs915754528 CA200930173	41	D>G		No	ClinGen TOPMed gnomAD
rs1181454258 CA375392696	41	D>H		No	ClinGen gnomAD
CA200930162 rs938445033	42	S>G		No	ClinGen TOPMed gnomAD
CA375392617 rs1217118515	44	P>L		No	ClinGen gnomAD
CA375392605 rs1432720306	45	V>A		No	ClinGen TOPMed gnomAD
rs1283866550 CA375392610	45	V>L		No	ClinGen gnomAD
CA375392508 rs1248099865	51	T>A		No	ClinGen gnomAD
CA375392502 rs1321726115	51	T>K		No	ClinGen TOPMed gnomAD
rs1321726115 CA375392504	51	T>M		No	ClinGen TOPMed gnomAD
CA375392489 rs1238890547	52	Q>R		No	ClinGen gnomAD
rs1300407920 CA375392417	56	D>G		No	ClinGen gnomAD
rs1425594041 CA375392425	56	D>N		No	ClinGen TOPMed
rs1180544386 CA375392408	57	L>V		No	ClinGen gnomAD
CA375392386 rs1401066107	58	P>R		No	ClinGen gnomAD
CA375392378 rs1169940222	59	R>C		No	ClinGen TOPMed
CA200930138 rs538941689	60	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA375392362 rs1360300560	60	P>S		No	ClinGen gnomAD
TCGA novel	62	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235972798 CA375390165	64	T>A		No	ClinGen gnomAD
CA375390161 rs1237405970	64	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA375390163 rs1237405970	64	T>R		No	ClinGen TOPMed gnomAD
rs1015385119 CA200921828	65	Q>E		No	ClinGen Ensembl
CA5304811 rs748089341	65	Q>P		No	ClinGen ExAC gnomAD
CA5304810 rs778761813	67	I>F		No	ClinGen ExAC gnomAD
CA5304807 rs767809928	68	G>S		No	ClinGen ExAC TOPMed gnomAD
rs757560244 CA5304806	69	E>K		No	ClinGen ExAC gnomAD
rs751633096 CA5304805	72	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763512643 CA5304803	74	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1196610954 CA375390002	77	Y>C		No	ClinGen gnomAD
rs1046533724 CA200921752	79	I>V		No	ClinGen TOPMed
CA5304798 rs370391981	82	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs759508164 CA5304797	82	R>H		No	ClinGen ExAC gnomAD
rs759508164 CA375389945	82	R>P		No	ClinGen ExAC gnomAD
CA5304799 rs370391981	82	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014642294 CA200921716	83	K>R		No	ClinGen TOPMed gnomAD
rs1446223994 CA375389911	84	V>G		No	ClinGen gnomAD
CA375389921 rs1310037579	84	V>L		No	ClinGen gnomAD
rs1336341128 CA375389890	85	Q>H		No	ClinGen gnomAD
CA5304793 rs143600924	87	H>Y		No	ClinGen ESP ExAC gnomAD
CA5304792 rs754978236	88	H>D		No	ClinGen ExAC gnomAD
rs367554386 CA5304790	89	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA375389796 rs1488816156	91	N>K		No	ClinGen TOPMed gnomAD
CA375389783 rs1238705307	92	K>M		No	ClinGen gnomAD
rs1588534123 CA375389760	93	G>E		No	ClinGen Ensembl
rs757539850 CA5304789	94	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA375389718 rs751897971	95	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5304788 rs751897971	95	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1356463305 CA375389707	96	W>R		No	ClinGen gnomAD
rs764203868 CA5304787	97	L>V		No	ClinGen ExAC TOPMed gnomAD
rs760040456 CA5304783	98	G>E		No	ClinGen ExAC TOPMed gnomAD
rs765622123 CA5304784	98	G>R		No	ClinGen ExAC gnomAD
rs760040456 CA375389649	98	G>V		No	ClinGen ExAC TOPMed gnomAD
rs765622123 CA200921662	98	G>W		No	ClinGen ExAC gnomAD
CA375389269 rs1461696856	99	Y>H		No	ClinGen TOPMed
rs1271379343 CA375389125	103	S>L		No	ClinGen TOPMed gnomAD
rs1271379343 CA375389127	103	S>W		No	ClinGen TOPMed gnomAD
CA5304759 rs149756673	105	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375389061 rs1257160405	106	N>S		No	ClinGen gnomAD
CA375389041 rs1216643435	107	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	110	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5304758 rs773723770	110	T>S		No	ClinGen ExAC TOPMed gnomAD
rs762952765 CA5304756	111	C>W		No	ClinGen ExAC TOPMed gnomAD
rs764135364 CA200920387	112	K>E		No	ClinGen TOPMed gnomAD
rs775620155 CA5304755	112	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1328810304 CA375388904	113	V>M		No	ClinGen gnomAD
CA375388884 rs1399176372	114	R>Q		No	ClinGen TOPMed gnomAD
rs745608287 CA375388886 COSM95132	114	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA375388871 rs781044833	115	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5304752 rs781044833	115	T>N		No	ClinGen ExAC TOPMed gnomAD
rs748456315 CA5304750	116	V>M		No	ClinGen ExAC gnomAD
rs1213083276 CA375388851	117	K>R		No	ClinGen TOPMed
CA5304748 rs755088680	119	G>S		No	ClinGen ExAC gnomAD
rs374734282 COSM1106370 CA5304747	120	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs756620107 CA5304745	122	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1313670731 CA375388784	125	V>L		No	ClinGen gnomAD
rs1024266271 CA200920287	128	L>V		No	ClinGen Ensembl
CA375388713 rs1588530683	129	V>G		No	ClinGen Ensembl
CA375388718 rs1345690003	129	V>L		No	ClinGen gnomAD
CA5304741 rs751265553	130	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5304740 rs763677226	131	A>T		No	ClinGen ExAC gnomAD
rs1328784372 CA375388677	133	Q>*		No	ClinGen gnomAD
RCV000894023 rs140586035 CA5304739	133	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs142698848 CA5304737	136	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs759530742 CA5304736	137	L>V		No	ClinGen ExAC gnomAD
rs981206885 CA200920223	139	Y>C		No	ClinGen TOPMed
rs770822696 CA5304734	140	V>I		No	ClinGen ExAC TOPMed gnomAD
CA375388504 rs1440334677	147	Y>C		No	ClinGen gnomAD
CA375388512 rs1427755483	147	Y>H		No	ClinGen TOPMed
TCGA novel	149	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200920216 rs192208660	154	Q>P		No	ClinGen 1000Genomes
rs900136288 CA200920208	160	L>Q		No	ClinGen Ensembl
CA375388313 rs1348177038	163	R>K		No	ClinGen gnomAD
rs747309081 CA5304705	164	Y>C		No	ClinGen ExAC gnomAD
rs149649229 CA375388252	165	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149649229 CA5304703	165	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149649229 RCV000921555 CA5304702	165	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754561928 CA5304700	166	R>K		No	ClinGen ExAC gnomAD
rs754561928 CA375388246	166	R>T		No	ClinGen ExAC gnomAD
rs753308941 CA5304699	167	C>Y		No	ClinGen ExAC gnomAD
rs1013125630 CA200919659	169	A>S		No	ClinGen TOPMed
COSM1460778 rs1013125630 CA375388226	169	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA375388221 rs1447532901	170	L>V		No	ClinGen TOPMed gnomAD
CA5304697 COSM204488 rs760546770	171	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA375388216 rs1588528937	171	T>P		No	ClinGen Ensembl
rs1588528909 CA375388209	172	A>S		No	ClinGen Ensembl
rs763135443 CA5304694	172	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5304692 rs769932363	173	S>F		No	ClinGen ExAC TOPMed gnomAD
rs775737624 CA5304693	173	S>T		No	ClinGen ExAC gnomAD
CA5304691 rs759622395	174	S>C		No	ClinGen ExAC gnomAD
rs759622395 CA200919634	174	S>F		No	ClinGen ExAC gnomAD
CA5304689 rs771409216	175	R>K		No	ClinGen ExAC TOPMed gnomAD
rs138259585 CA5304687	177	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5304685 rs747776675	178	C>W		No	ClinGen ExAC gnomAD
rs1216570461 CA375388169	179	I>F		No	ClinGen TOPMed
TCGA novel	180	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs895955159 CA200919568	182	Y>C		No	ClinGen Ensembl
CA5304681 rs753334117	183	S>F		No	ClinGen ExAC gnomAD
rs756045391 CA5304679	184	D>N		No	ClinGen ExAC TOPMed gnomAD
rs756045391 CA375388102	184	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1564236986 CA375388064 CA375388067	185	E>D		No	ClinGen Ensembl
rs367807822 CA5304677	185	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5304674 rs765434807	188	G>R		No	ClinGen ExAC TOPMed gnomAD
CA200919540 rs866214249	189	P>S		No	ClinGen Ensembl
CA375387890 rs1238343717	195	N>D		No	ClinGen gnomAD
TCGA novel	195	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5304673 rs759688584	195	N>S		No	ClinGen ExAC gnomAD
CA375387690 rs1157523070	198	S>F		No	ClinGen gnomAD
CA5304648 rs768067836	199	S>F		No	ClinGen ExAC gnomAD
rs1307778871 CA375387645	200	I>M		No	ClinGen gnomAD
CA375387629 rs1258579185	202	G>S		No	ClinGen TOPMed
CA375387597 rs1317255627	203	T>I		No	ClinGen TOPMed
rs1369896740 CA375387579	204	W>C		No	ClinGen gnomAD
rs1475702247 CA375387552	206	D>E		No	ClinGen gnomAD
CA375387559 rs1244499425	206	D>G		No	ClinGen TOPMed
CA5304647 rs377211528	206	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA375387537 rs1257299222	207	Q>L		No	ClinGen gnomAD
rs774776739 CA5304646	209	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5304643 rs561888919	210	E>D		No	ClinGen ExAC TOPMed gnomAD
CA375387473 rs1204700443	211	D>N		No	ClinGen gnomAD
CA200918730 rs7045088	213	C>S		No	ClinGen Ensembl
CA375387387 rs1348798848	214	Q>H		No	ClinGen gnomAD
rs769468048 CA5304642	215	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375387376 rs1588526584	215	P>S		No	ClinGen Ensembl
rs1245835459 CA375387360	216	P>L		No	ClinGen gnomAD
CA375387345 rs1588526554	217	D>A		No	ClinGen Ensembl
rs780695646 CA5304640	217	D>N		No	ClinGen ExAC TOPMed gnomAD
rs757171212 CA5304639	218	F>L		No	ClinGen ExAC
rs199653450 CA5304638	218	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs957844152 CA200918698	219	P>R		No	ClinGen TOPMed gnomAD
CA5304636 rs568050976	219	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA375387291 rs1408470551	220	C>*		No	ClinGen TOPMed
RCV000949541 CA5304634 rs140573248	222	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1302427744 CA375387207	225	V>M		No	ClinGen TOPMed
rs750470841 CA5304632	228	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5304631 rs767775088	230	L>F		No	ClinGen ExAC TOPMed gnomAD
rs796247442 CA200918683	231	N>H		No	ClinGen Ensembl
CA375387112 rs1479088094	231	N>S		No	ClinGen gnomAD
CA5304630 rs762354209	232	M>V		No	ClinGen ExAC gnomAD
CA375387067 rs1216782707	233	P>L		No	ClinGen TOPMed
rs1264456054 CA375387059	234	G>R		No	ClinGen TOPMed
rs576265494 CA200918672	235	S>A		No	ClinGen Ensembl
rs938446253 CA200918667	235	S>L		No	ClinGen Ensembl
rs374152758 CA5304629	236	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs757484365 CA200918656	238	E>D		No	ClinGen gnomAD
rs763187759 CA5304627	238	E>G		No	ClinGen ExAC TOPMed gnomAD
COSM3745877 rs775837663 CA5304626 COSM3213147 COSM3213145	239	R>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5304625 rs377532288	239	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs759245614 CA5304624	240	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5304623 rs776113349	240	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781367443	245	L>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	246	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200918638 rs1013739435	246	A>S		No	ClinGen TOPMed
rs1391922480 CA375386884	246	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375386878 rs1467462107	247	Q>K		No	ClinGen gnomAD
rs562453822 CA200918629	250	H>D		No	ClinGen Ensembl
rs746941762 CA5304620	251	S>L		No	ClinGen ExAC TOPMed gnomAD
CA375386819 rs1482802229	252	E>G		No	ClinGen TOPMed gnomAD
rs1474739348 CA375386826	252	E>K		No	ClinGen TOPMed gnomAD
CA5304618 rs772073696	253	P>A		No	ClinGen ExAC TOPMed gnomAD
rs772073696 CA200918612	253	P>T		No	ClinGen ExAC TOPMed gnomAD
CA375386801 rs1257127848	254	I>F		No	ClinGen gnomAD
rs747828890 CA200918611	254	I>N		No	ClinGen ExAC TOPMed gnomAD
COSM1223077 rs747828890 CA5304617	254	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA375386786 rs1468192928	255	E>V		No	ClinGen gnomAD
TCGA novel	259	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs917583202 CA200918288	260	A>V		No	ClinGen TOPMed gnomAD
CA200918285 rs986991581	261	L>V		No	ClinGen TOPMed
rs764488895 CA200918281	262	S>L		No	ClinGen TOPMed gnomAD
rs1447719532 CA375386670	263	P>T		No	ClinGen TOPMed
CA5304604 rs556188646	264	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	265	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200918262 rs973144363	269	P>L		No	ClinGen TOPMed
rs867648698 CA200918257	270	T>A		No	ClinGen Ensembl
CA375386591 rs1457955192	271	P>S		No	ClinGen TOPMed gnomAD
rs765655265 CA5304603	274	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1223961378 CA375386544	276	A>T		No	ClinGen TOPMed gnomAD
CA375386536 rs1185119531	276	A>V		No	ClinGen TOPMed
CA375386531 rs1162558814	277	L>P		No	ClinGen gnomAD
rs1440395755 CA375386520	278	T>I		No	ClinGen TOPMed gnomAD
rs759155640 CA5304602	281	R>G		No	ClinGen ExAC TOPMed gnomAD
rs745523786 CA375386495	281	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM3699504 COSM3699503 rs745523786 CA5304601 COSM3699501	281	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1564235431 CA375386485	282	A>V		No	ClinGen Ensembl
rs1434675545 CA375386458	285	P>T		No	ClinGen TOPMed gnomAD
rs374513332 CA375386434	287	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5304600 RCV000941728 rs374513332	287	P>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs538005388 CA200918213	287	P>S		No	ClinGen 1000Genomes gnomAD
rs1259844815 CA375386432	288	A>P		No	ClinGen gnomAD
CA375386422 rs1175702507	289	P>S		No	ClinGen gnomAD
rs758869182 CA200918173	291	P>A		No	ClinGen Ensembl
rs1473621060 CA375386399	291	P>L		No	ClinGen TOPMed gnomAD
rs1473621060 CA375386402	291	P>Q		No	ClinGen TOPMed gnomAD
rs1473621060 CA375386401	291	P>R		No	ClinGen TOPMed gnomAD
rs1210038737 CA375386379	293	P>A		No	ClinGen gnomAD
CA375386372 rs1199018273	293	P>L		No	ClinGen TOPMed
rs1287527856 CA375386358	295	P>S		No	ClinGen TOPMed gnomAD
rs1215972831 CA375386347	296	A>D		No	ClinGen TOPMed gnomAD
rs1002694704 CA375386335	297	P>L		No	ClinGen TOPMed gnomAD
CA200918133 rs1002694704	297	P>R		No	ClinGen TOPMed gnomAD
CA200918124 rs145081291	298	T>A		No	ClinGen ESP
rs1052384738 CA200918122	298	T>I		No	ClinGen TOPMed gnomAD
CA5304596 rs771844046	299	P>S		No	ClinGen ExAC gnomAD
CA200918108 rs141210369	300	A>V		No	ClinGen ESP
rs748172125 CA5304595	301	P>A		No	ClinGen ExAC gnomAD
TCGA novel	301	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200918100 rs906943419	303	S>L		No	ClinGen TOPMed gnomAD
rs778821734 CA5304594	304	E>K		No	ClinGen ExAC gnomAD
CA5304593 rs768623077	308	A>P		No	ClinGen ExAC gnomAD
rs757509623 CA375386242	311	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757509623 CA5304590	311	P>R		No	ClinGen ExAC TOPMed gnomAD
rs781524120 CA5304591	311	P>S		No	ClinGen ExAC
CA5304589 rs751539855	312	A>V		No	ClinGen ExAC gnomAD
rs777969180 CA5304588	313	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753240581 CA5304586	316	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs371299678 CA200918059	317	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs371299678 CA5304585	317	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA375386202 rs1335130922	318	A>S		No	ClinGen gnomAD
rs759840435 CA5304582	319	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754228727 CA5304581	320	E>A		No	ClinGen ExAC gnomAD
rs1232200093 CA375386172	323	V>E		No	ClinGen TOPMed
rs547809674 CA5304579	323	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375386174 rs547809674	323	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1383286989 CA375386163	325	L>I		No	ClinGen gnomAD
rs151046197 CA5304578	327	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs151046197 CA5304577	327	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs761822147 CA5304575	328	A>S		No	ClinGen ExAC gnomAD
CA5304574 rs768745857	329	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5304573 rs768745857	329	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5304572 rs749029769	330	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5304569 rs148697190	331	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771048845 CA5304570	331	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	332	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200917994 rs867142328	333	L>P		No	ClinGen Ensembl
rs1158408041 CA375385689	333	L>V		No	ClinGen TOPMed
rs550220780 CA200917970	335	L>Q		No	ClinGen 1000Genomes
rs972811487 CA200917963	336	E>D		No	ClinGen Ensembl
CA375385656 rs1362492651	336	E>K		No	ClinGen TOPMed
CA5304564 rs758551104	338	A>P		No	ClinGen ExAC gnomAD
CA5304563 rs748246085	339	P>L		No	ClinGen ExAC
rs779348238 CA5304561	341	Q>E		No	ClinGen ExAC gnomAD
rs868455208 CA200917934	342	D>E		No	ClinGen TOPMed
rs144981096 CA5304558	343	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144981096 CA5304557	343	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	344	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs958606800 CA200917921	345	P>L		No	ClinGen Ensembl
CA200917911 rs1034268530	347	Q>E		No	ClinGen TOPMed gnomAD
CA200917906 rs1034268530	347	Q>K		No	ClinGen TOPMed gnomAD
CA5304556 rs766823102	348	T>I		No	ClinGen ExAC gnomAD
rs1305137302 CA375385459	350	E>G		No	ClinGen TOPMed
CA375385397 rs1264749656	355	P>T		No	ClinGen TOPMed
rs750140547 CA5304552	356	A>G		No	ClinGen ExAC TOPMed
CA200917885 rs750140547	356	A>V		No	ClinGen ExAC TOPMed
rs761368409 CA5304550	357	P>L		No	ClinGen ExAC gnomAD
rs764070035 CA5304548	359	P>A		No	ClinGen ExAC gnomAD
rs1233550228 CA375385326	359	P>L		No	ClinGen gnomAD
CA375385310 rs1313545756	361	L>V		No	ClinGen gnomAD
CA5304547 rs763046032	362	Q>R		No	ClinGen ExAC gnomAD
rs747173721 CA5304544	364	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5304545 rs769672922	364	S>P		No	ClinGen ExAC gnomAD
CA5304543 rs773431800	365	W>S		No	ClinGen ExAC
CA5304542 rs772309425	366	P>L		No	ClinGen ExAC gnomAD
rs1564234722 CA375385233	366	P>T		No	ClinGen Ensembl
CA5304541 rs748155934	367	S>L		No	ClinGen ExAC gnomAD
TCGA novel	368	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5304539 rs571800988	368	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA375385208 rs1213673372	369	V>M		No	ClinGen gnomAD
rs780261376 CA5304537	371	A>T		No	ClinGen ExAC gnomAD
rs143776396 CA5304536	371	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA375385155 rs1172901772	372	E>V		No	ClinGen TOPMed
CA200917842 rs34054856	373	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5304534 CA375385131 rs201185976	374	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5304533 rs756988171	375	L>M		No	ClinGen ExAC gnomAD
rs1314591591 CA375385119	375	L>P		No	ClinGen gnomAD
rs369916121 CA5304532	376	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5304530 rs556390384	378	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA200917802 rs556390384	378	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs182707277 CA200917794	381	H>L		No	ClinGen 1000Genomes
CA375385050 rs182707277	381	H>R		No	ClinGen 1000Genomes
CA200917770 rs934247408	383	L>F		No	ClinGen gnomAD
CA5304529 rs752726985	383	L>S		No	ClinGen ExAC gnomAD
CA375385018 rs1180667490	384	V>E		No	ClinGen gnomAD
rs765105638 CA5304528	385	F>L		No	ClinGen ExAC gnomAD
rs1190659229 CA375384993	386	P>L		No	ClinGen gnomAD
CA5304525 rs537773424	388	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA5304526 rs776290729	388	D>N		No	ClinGen ExAC gnomAD
CA375384950 rs1201851478	390	V>G		No	ClinGen TOPMed
CA375384956 rs1316689713	390	V>M		No	ClinGen TOPMed
rs1261471350 CA375384945	391	A>V		No	ClinGen gnomAD
CA200917760 rs941439753	394	F>L		No	ClinGen TOPMed gnomAD
rs774408770 COSM753298 CA5304523	399	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA375384770 rs1564233953	400	E>K		No	ClinGen Ensembl
CA375384757 rs1216235765	402	F>V		No	ClinGen gnomAD
CA5304498 rs746431765	405	V>M		No	ClinGen ExAC gnomAD
rs1233751964 CA375384723	406	V>G		No	ClinGen TOPMed
CA5304494 rs777524743	409	H>P		No	ClinGen ExAC gnomAD
CA5304495 rs747397050	409	H>Y		No	ClinGen ExAC gnomAD
CA5304493 rs757987768	410	C>F		No	ClinGen ExAC gnomAD
CA375384678 rs1292612517	413	S>F		No	ClinGen TOPMed
rs1412115466 CA375384676	414	I>V		No	ClinGen gnomAD
rs1397756746 CA375384663	415	W>C		No	ClinGen gnomAD
CA375384645 rs1564233840	418	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs778344569 CA5304490	425	H>P		No	ClinGen ExAC gnomAD
rs1244752060 CA375384585	426	L>R		No	ClinGen gnomAD
rs1454037689 CA375384588	426	L>V		No	ClinGen gnomAD
rs753812769 CA5304488	427	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755865432 CA5304486	430	I>V		No	ClinGen ExAC gnomAD
CA375384559 rs1349365269	431	R>C		No	ClinGen TOPMed gnomAD
CA5304485 COSM1106364 rs562649251	431	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
COSM1106363 CA375384556 rs1368400620	432	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs763143014 CA5304483	434	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5304481 rs765277223	439	S>N		No	ClinGen ExAC gnomAD
CA375384467 rs1434336316	445	I>V		No	ClinGen gnomAD
CA5304476 rs777232468	446	T>S		No	ClinGen ExAC TOPMed gnomAD
CA375384436 CA5304474 rs747308786	450	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5304473 rs771738406	452	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771738406 CA5304472	452	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5304471 rs768723223	452	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5304470 rs371689665	453	S>N		No	ClinGen ESP ExAC gnomAD
CA5304469 rs754493556	453	S>R		No	ClinGen ExAC gnomAD
CA5304468 rs141988412	454	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs145748077 CA5304465	455	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1353529712 CA375384407	455	K>R		No	ClinGen TOPMed
COSM1554193 rs767285618 CA5304464	456	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs758620729 CA5304463	458	D>N		No	ClinGen ExAC gnomAD
rs752914497 CA5304462	458	D>V		No	ClinGen ExAC gnomAD
rs765521218 CA5304461	460	A>T		No	ClinGen ExAC gnomAD
CA375384362 rs1588522169	462	V>G		No	ClinGen Ensembl
CA375384366 rs1219913856	462	V>M		No	ClinGen TOPMed
rs1224712997 COSM1106362 CA375384321	468	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs889150937 CA200916529	472	E>G		No	ClinGen Ensembl
rs1588521351 CA375384283	472	E>Q		No	ClinGen Ensembl
rs768088973 CA5304437	474	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375384268 rs1245759725	474	R>W		No	ClinGen gnomAD
rs1470073438 CA375384259	475	I>M		No	ClinGen gnomAD
rs1444785660 CA375384261	475	I>N		No	ClinGen TOPMed
CA375384222 rs1320498928	481	S>T		No	ClinGen gnomAD
CA375384207 rs1215165915	483	Y>C		No	ClinGen gnomAD
CA5304434 rs768181135	485	I>V		No	ClinGen ExAC gnomAD
CA5304432 rs774953933	488	A>D		No	ClinGen ExAC gnomAD
CA375384176 rs774953933	488	A>G		No	ClinGen ExAC gnomAD
rs1456326135 CA375384155	491	S>R		No	ClinGen gnomAD
CA5304429 rs780954283	493	S>P		No	ClinGen ExAC gnomAD
rs770902456 CA5304428	495	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs939829710 CA200916453	496	R>C		No	ClinGen gnomAD
CA5304426 rs550664081 COSM1460776	496	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
VAR_035822	496	R>L	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
CA375384116 rs1588521192	498	K>Q		No	ClinGen Ensembl
CA200916428 rs181444710	499	K>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA5304423 rs61739697	500	T>M		No	ClinGen ExAC TOPMed
rs61739697 CA375384092	500	T>R		No	ClinGen ExAC TOPMed
rs756211619 CA5304421	502	E>K		No	ClinGen ExAC gnomAD
rs201487990 CA375384051	503	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5304420 rs200214634	503	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs750638597 CA5304418	504	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1381588873 CA375383382	506	R>S		No	ClinGen TOPMed
CA375383380 rs1170401876	507	D>N		No	ClinGen gnomAD
TCGA novel	507	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757675010 CA5304398	508	S>G		No	ClinGen ExAC TOPMed gnomAD
CA375383368 rs565038902	508	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748018982 CA200913768	509	F>I		No	ClinGen TOPMed gnomAD
CA375383362 rs1250175837	509	F>Y		No	ClinGen gnomAD
CA5304395 rs758724330	510	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5304396 rs764611418	510	R>W		No	ClinGen ExAC TOPMed gnomAD
CA591053203 rs1353180563	519	F>*		No	ClinGen gnomAD
rs1365926256 CA375383220	522	E>*		No	ClinGen TOPMed
CA375383180 rs1261089407	524	N>H		No	ClinGen gnomAD
rs765949443 CA5304389	529	R>Q		No	ClinGen ExAC
rs775995990 CA5304390	529	R>W		No	ClinGen ExAC gnomAD
rs760506189 CA5304388	531	L>V		No	ClinGen ExAC gnomAD
CA375383036 rs1211582542	533	I>L		No	ClinGen TOPMed gnomAD
CA375382604 rs1254650988	535	E>G		No	ClinGen gnomAD
CA375382611 rs1201373874	535	E>K		No	ClinGen TOPMed
CA375382597 rs1564230534	536	G>S		No	ClinGen Ensembl
rs771067361 CA5304360	537	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1035816447 CA200912701	540	F>L		No	ClinGen TOPMed
CA200912699 rs998930954	542	T>A		No	ClinGen Ensembl
rs140862987 CA5304359	545	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA375382492 rs1197516388	545	M>L		No	ClinGen gnomAD
CA5304358 rs777885180	546	N>K		No	ClinGen ExAC gnomAD
CA5304356 rs748691691	549	R>G		No	ClinGen ExAC gnomAD
rs375740894 CA5304355	549	R>K		No	ClinGen ESP ExAC gnomAD
rs755319517 CA5304354	551	Q>E		No	ClinGen ExAC gnomAD
rs200445674 CA5304353	551	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs755735198 CA5304351	553	R>Q		No	ClinGen ExAC gnomAD
rs779690491 CA5304352	553	R>W		No	ClinGen ExAC TOPMed gnomAD
rs369868878 CA5304350	554	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375382405 rs369868878	554	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5304349 rs369868878	554	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751495446 CA5304347	555	K>E		No	ClinGen ExAC gnomAD
CA375382393 rs1401025833	556	E>A		No	ClinGen TOPMed
CA5304346 rs145322600	557	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5304316 rs774308063	558	G>V		No	ClinGen ExAC gnomAD
CA5304313 rs376605206	564	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA375382324 rs1357573198	565	P>H		No	ClinGen gnomAD
rs746266731 CA5304311	569	T>M		No	ClinGen ExAC gnomAD
rs1476174020 CA375382282	572	T>A		No	ClinGen gnomAD
CA375382278 rs1405572493	572	T>I		No	ClinGen TOPMed
rs777219637 CA375382277	573	D>H		No	ClinGen ExAC TOPMed gnomAD
rs777219637 CA5304307	573	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375382232 rs1243441798	579	T>I		No	ClinGen gnomAD
rs1458990454 CA375382220	581	M>I		No	ClinGen gnomAD
rs372581332 CA200912372	581	M>T		No	ClinGen ESP
CA375382198 rs1209000008	584	Y>C		No	ClinGen gnomAD
rs752622189 CA5304305	585	L>M		No	ClinGen ExAC TOPMed
CA375382112 rs1359421615	588	R>G		No	ClinGen gnomAD
rs764409984 CA5304280	588	R>T		No	ClinGen ExAC gnomAD
rs762876570 CA5304279	589	L>F		No	ClinGen ExAC
CA375382086 rs1314324802	590	I>T		No	ClinGen gnomAD
CA375382014 rs1564229448	596	R>K		No	ClinGen Ensembl
CA375381882 COSM1242752 rs1468529104	600	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5304248 rs773820453	601	V>L		No	ClinGen ExAC TOPMed gnomAD
CA375381860 rs773820453	601	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5304246 rs748828691 COSM1106360	603	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs779901927 CA5304245	603	A>V		No	ClinGen ExAC gnomAD
CA5304244 rs769786266	604	Q>E		No	ClinGen ExAC gnomAD
CA200911520 rs867389454	611	A>T		No	ClinGen Ensembl
CA200911515 rs1018979129	611	A>V		No	ClinGen TOPMed gnomAD
rs200859688 CA375381548	618	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5304237 rs200859688	618	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5304236 rs148643917	618	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767964155 CA5304233	619	P>L		No	ClinGen ExAC gnomAD
CA375381529 rs1367778542	619	P>S		No	ClinGen gnomAD
CA375381508 rs1457052961	620	D>V		No	ClinGen gnomAD
CA375381498 rs1348422011	621	E>K		No	ClinGen TOPMed
rs1383368619 CA375381476	622	Q>L		No	ClinGen gnomAD
rs1463707240 CA375381445	624	G>V		No	ClinGen TOPMed
CA5304232 rs761432162	626	W>L		No	ClinGen ExAC gnomAD
CA5304230 rs149879030	628	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767057890 CA5304231	628	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1451619176 CA375381388	629	A>V		No	ClinGen gnomAD
rs377193380 CA5304228	630	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375381363 rs1291874135	631	E>G		No	ClinGen gnomAD
rs373186793 RCV000735079 CA5304226	632	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA200911406 rs146390575	632	R>W		No	ClinGen ESP TOPMed gnomAD
TCGA novel	633	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770706180 CA5304224	634	S>N		No	ClinGen ExAC gnomAD
rs1326071101 CA375381306 CA375381307	635	E>D		No	ClinGen gnomAD
CA375381319 rs1325083372	635	E>K		No	ClinGen gnomAD
CA375381295 rs779207859	636	T>I		No	ClinGen ExAC gnomAD
rs779207859 CA5304222	636	T>S		No	ClinGen ExAC gnomAD
rs1390086255 CA375381268	638	S>N		No	ClinGen gnomAD
rs371528118 CA5304191	638	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	639	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759015141 CA5304190	640	N>T		No	ClinGen ExAC gnomAD
CA375381106 rs1376241781	642	S>L		No	ClinGen TOPMed
CA375381087 rs1473500866	643	C>F		No	ClinGen gnomAD
rs773111606 CA375381082	643	C>W		No	ClinGen ExAC TOPMed gnomAD
CA375381091 rs1473500866	643	C>Y		No	ClinGen gnomAD
CA5304185 rs138943401	644	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775715254 CA5304183	647	P>A		No	ClinGen ExAC gnomAD
rs1211121025 CA375381027	647	P>L		No	ClinGen gnomAD
rs769921559 CA5304182	648	P>A		No	ClinGen ExAC gnomAD
CA375380987 rs1234370750	651	S>L		No	ClinGen TOPMed
CA375380976 rs1284974271	652	A>V		No	ClinGen gnomAD
CA375380945 rs1458378585	655	T>N		No	ClinGen gnomAD
rs1380284555 CA375380941	656	L>V		No	ClinGen gnomAD
rs960514805 CA200911094	657	R>G		No	ClinGen TOPMed gnomAD
CA5304177 rs141873073	658	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5304175 rs753012671	659	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs754648707 CA5304173	660	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5304174 rs778573933	660	K>T		No	ClinGen ExAC gnomAD
rs1389657213 CA375380874	661	N>Y		No	ClinGen TOPMed
CA5304171 rs143632195	662	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753387103 CA5304172	662	T>P		No	ClinGen ExAC gnomAD
CA375380846 rs1249513215	663	A>T		No	ClinGen gnomAD
CA5304169 rs750338106	664	I>T		No	ClinGen ExAC gnomAD
rs201385367 CA5304168	667	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5304167 rs761610855	667	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	668	W>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290747642	669	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs953842716 CA200911046	669	S>R		No	ClinGen TOPMed gnomAD
CA5304166 rs774071091	670	D>N		No	ClinGen ExAC TOPMed gnomAD
rs900782953 CA200910810	671	R>C		No	ClinGen TOPMed gnomAD
CA5304149 rs748411421	671	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1372858947 CA375380566	674	P>T		No	ClinGen gnomAD
rs1435287958 CA375380548	675	S>N		No	ClinGen gnomAD
rs368487328 CA5304146	676	T>A		No	ClinGen ESP ExAC gnomAD
rs766588898 CA5304145	676	T>I		No	ClinGen ExAC TOPMed gnomAD
rs773342144 CA5304143	677	E>D		No	ClinGen ExAC gnomAD
CA5304144 rs760693070	677	E>V		No	ClinGen ExAC TOPMed gnomAD
CA200910783 rs890507267	678	L>F		No	ClinGen TOPMed gnomAD
rs1211917826 CA375380473	679	S>T		No	ClinGen gnomAD
CA200910753 rs1053204114	680	T>S		No	ClinGen TOPMed
TCGA novel	681	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282596559 CA375380394	682	G>V		No	ClinGen Ensembl
rs1221665482 CA375380376	683	S>R		No	ClinGen gnomAD
CA375380361 rs1212249141	684	S>F		No	ClinGen gnomAD
CA375380358 rs1351790667	685	H>N		No	ClinGen gnomAD
rs1288510057 CA375380345	685	H>Q		No	ClinGen gnomAD
CA5304140 rs139082000	686	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1467862868 CA375380231	694	C>R		No	ClinGen gnomAD
CA200910709 rs1043106953	694	C>Y		No	ClinGen TOPMed gnomAD
rs1479775279 CA375380210	695	G>D		No	ClinGen gnomAD
CA375380216 rs1176307480	695	G>S		No	ClinGen gnomAD
TCGA novel	699	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183861648 CA375379947	701	G>A		No	ClinGen TOPMed gnomAD
COSM3952433 rs376306097 COSM3952432 CA5304139 COSM3952430	701	G>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA200910704 rs916517753	702	D>N		No	ClinGen TOPMed gnomAD
rs200199802 CA375379912	703	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147006349 CA5304137	704	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5304136 rs755889399	706	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370960854 CA5304135	706	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757194753 CA5304133	707	L>F		No	ClinGen ExAC gnomAD
rs757194753 CA375379850	707	L>V		No	ClinGen ExAC gnomAD
CA375379815 CA375379818 rs764119929	709	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5304131 rs764119929	709	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5304130 rs758059159	710	H>L		No	ClinGen ExAC TOPMed gnomAD
CA375379795 rs758059159	710	H>R		No	ClinGen ExAC TOPMed gnomAD
rs373357690 CA200910658	711	S>L		No	ClinGen gnomAD
rs113532379 CA5304127	713	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1362187455 CA375379711	716	S>G		No	ClinGen gnomAD
CA5304125 rs767544998	718	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5304123 rs774681232	719	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375379620 rs984770014	722	I>M		No	ClinGen Ensembl
rs1204523674 CA375379616	723	N>D		No	ClinGen gnomAD
CA375379619 rs1204523674	723	N>Y		No	ClinGen gnomAD
CA5304121 rs34170541	724	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1358214713 CA375379589	725	S>G		No	ClinGen gnomAD
CA375379551 rs548531503	727	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5304119 rs548531503	727	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA200910599 rs148398301	728	P>L		No	ClinGen ESP TOPMed gnomAD
rs148398301 CA375379537	728	P>R		No	ClinGen ESP TOPMed gnomAD
rs1382217077 CA375379532	729	E>*		No	ClinGen gnomAD
CA375379525 rs1382880454	729	E>G		No	ClinGen gnomAD
CA5304117 rs745562514	732	D>E		No	ClinGen ExAC gnomAD
TCGA novel	732	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	733	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202986313 CA375379460	734	Q>H		No	ClinGen TOPMed
CA200910595 rs181672343	734	Q>P		No	ClinGen 1000Genomes gnomAD
CA375379465 rs181672343	734	Q>R		No	ClinGen 1000Genomes gnomAD
rs1239306662 CA375379451	735	E>G		No	ClinGen TOPMed
CA375379458 rs1384786485	735	E>K		No	ClinGen gnomAD
rs1451062675 CA375379436	736	K>R		No	ClinGen gnomAD
CA375379372 TCGA novel rs1588509139	738	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs1013452005 CA200910391	740	E>D		No	ClinGen TOPMed
CA200910393 rs1040770476	740	E>K		No	ClinGen TOPMed gnomAD
CA5304096 rs372479467	741	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs908189074 CA375379332	744	Q>*		No	ClinGen TOPMed gnomAD
CA200910376 rs908189074	744	Q>E		No	ClinGen TOPMed gnomAD
CA200910365 rs753866699	746	S>F		No	ClinGen gnomAD
CA200910355 rs931531759	747	P>L		No	ClinGen TOPMed gnomAD
CA200910358 rs931531759	747	P>R		No	ClinGen TOPMed gnomAD
rs777411574 CA5304092	749	T>S		No	ClinGen ExAC gnomAD
CA375379261 rs1156431769	751	G>S		No	ClinGen TOPMed gnomAD
rs1047531917 CA200910350	754	S>L		No	ClinGen TOPMed gnomAD
rs1473614334 CA375379217	754	S>P		No	ClinGen gnomAD
CA375379164 rs1461164122	758	S>G		No	ClinGen gnomAD
CA375379150 rs1588509041	759	T>P		No	ClinGen Ensembl
CA5304090 rs748135564	760	S>L		No	ClinGen ExAC gnomAD
CA5304089 rs761837302	761	S>F		No	ClinGen ExAC gnomAD
rs1564227297 CA375379088	764	A>V		No	ClinGen Ensembl
rs754730201 CA375379086	765	S>P		No	ClinGen ExAC
rs754730201 CA5304088	765	S>T		No	ClinGen ExAC
rs1588508985 CA375379075	766	T>P		No	ClinGen Ensembl
rs143871051 CA5304086	767	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5304082 rs140188278	769	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588508953 CA375379006	771	A>G		No	ClinGen Ensembl
TCGA novel	771	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5304080 rs765841775	773	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5304081 rs765841775	773	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1460772 CA5304079 rs561121466	773	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs146108823 CA200910294	774	T>P		No	ClinGen ESP gnomAD
CA375378960 rs1344090318	775	H>P		No	ClinGen gnomAD
CA375378959 rs1344090318	775	H>R		No	ClinGen gnomAD
rs1315526725 CA375378944	776	K>R		No	ClinGen gnomAD
CA5304078 rs777108342	777	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770489030 CA5304077	777	R>H		No	ClinGen ExAC TOPMed gnomAD
CA200910287 rs770489030	777	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1230211754 CA375378906	780	S>P		No	ClinGen TOPMed
CA200910280 rs918044068	781	G>A		No	ClinGen Ensembl
rs918044068 CA375378888	781	G>E		No	ClinGen Ensembl
CA5304075 rs772576979	782	L>F		No	ClinGen ExAC gnomAD
CA200910273 rs987574118	784	N>S		No	ClinGen TOPMed gnomAD
CA200910269 rs556933872	785	S>C		No	ClinGen gnomAD
CA200910264 rs556933872	785	S>F		No	ClinGen gnomAD
rs988212205 CA375378819	786	S>R		No	ClinGen TOPMed gnomAD
CA375378825 rs1240022065	786	S>T		No	ClinGen TOPMed
rs373885223 CA5304073	787	S>A		No	ClinGen ESP ExAC gnomAD
rs768595031 CA375378806	788	A>P		No	ClinGen ExAC TOPMed gnomAD
rs768595031 CA5304071	788	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5304070 rs749023526	788	A>V		No	ClinGen ExAC TOPMed gnomAD
rs530209393 CA5304067	790	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA375378738 rs1361118832	793	N>S		No	ClinGen gnomAD
rs1268368053 CA375378707	795	Q>R		No	ClinGen gnomAD
CA375378694 rs1588508727	796	V>G		No	ClinGen Ensembl
rs758482477 CA5304065	796	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758482477 CA375378702	796	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1422433142 CA375378676	798	D>N		No	ClinGen gnomAD
CA5304063 rs765821598	799	C>F		No	ClinGen ExAC gnomAD
CA375378641 rs1172911786	800	C>F		No	ClinGen gnomAD
rs1419371822 CA375378597	803	R>H		No	ClinGen TOPMed gnomAD
rs544162125 CA5304060	804	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5304057 rs150849255 CA200910172	808	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150849255 CA5304058 COSM1223078	808	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1253314002 CA375378511	810	N>D		No	ClinGen gnomAD
CA375378463 rs1270760956	813	M>I		No	ClinGen gnomAD
rs773910354 CA5304056	813	M>L		No	ClinGen ExAC gnomAD
rs768548351 CA5304054	813	M>T		No	ClinGen ExAC TOPMed gnomAD
rs773910354 CA5304055	813	M>V		No	ClinGen ExAC gnomAD
CA375378428 rs1225334988	815	K>N		No	ClinGen gnomAD
CA375378263 COSM355605 rs1456742248	819	V>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5303967 rs771391918	820	T>S		No	ClinGen ExAC gnomAD
CA375378240 rs1251587904	822	Q>H		No	ClinGen TOPMed
CA200908913 rs374904252	825	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs374904252 CA5303965	825	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5303966 rs374904252	825	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5303964 rs772287647	826	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5303962 rs778654353	827	A>S		No	ClinGen ExAC gnomAD
rs754739326 CA5303961	828	V>I		No	ClinGen ExAC gnomAD
rs548782715 CA200908898	829	I>S		No	ClinGen Ensembl
rs1237649761 CA375378169	829	I>V		No	ClinGen gnomAD
rs1164044260 CA375378156	830	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5303960 rs779751243	830	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5303959 rs779751243	830	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5303957 rs750286167	831	K>E		No	ClinGen ExAC gnomAD
rs1357359880 CA375378135	832	A>T		No	ClinGen gnomAD
CA16040492 rs1319657848	832	A>V		No	ClinGen gnomAD
CA200908875 rs1034108507	833	M>I		No	ClinGen TOPMed gnomAD
rs767493229 CA5303956	834	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1564225891 CA375378050	837	N>K		No	ClinGen Ensembl
COSM3413414 rs771418767 COSM3413413 CA5303955 COSM3413411	837	N>S	central_nervous_system Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1286871664 CA375378043	838	L>R		No	ClinGen TOPMed
CA375378037 rs1234446157	839	E>Q		No	ClinGen TOPMed
CA200908873 rs971033044	840	E>K		No	ClinGen TOPMed
CA375378010 rs1206776662	842	E>A		No	ClinGen TOPMed
rs759790902 CA5303951	843	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375377991 rs1017495823	845	D>G		No	ClinGen TOPMed gnomAD
CA5303948 rs760843215	845	D>H		No	ClinGen ExAC gnomAD
CA375377994 rs760843215	845	D>N		No	ClinGen ExAC gnomAD
CA200908853 rs1017495823	845	D>V		No	ClinGen TOPMed gnomAD
CA375377988 rs1427733796	846	Y>H		No	ClinGen Ensembl
rs1165696112 CA375377952	851	I>F		No	ClinGen TOPMed gnomAD
rs762073497 CA5303944	853	S>*		No	ClinGen ExAC gnomAD
rs367835172 CA5303945	853	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	853	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375377930 rs1415846307	854	D>E		No	ClinGen TOPMed
rs1430786986 CA375377922	855	D>E		No	ClinGen TOPMed gnomAD
CA5303940 rs779876054	856	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5303942 rs371672965	856	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA375377050 rs1199349630	858	L>M		No	ClinGen TOPMed
rs780791091 CA5303919	863	N>D		No	ClinGen ExAC TOPMed gnomAD
rs780791091 CA375377004	863	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA5303917 rs746897111	864	A>T		No	ClinGen ExAC gnomAD
CA5303914 rs539826984	866	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	867	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5303912 rs756428809	871	N>K		No	ClinGen ExAC gnomAD
rs750439381 CA5303911	872	S>T		No	ClinGen ExAC gnomAD
rs752074040 CA5303908	874	A>T		No	ClinGen ExAC TOPMed gnomAD
CA375376866 rs1431589918	883	R>G		No	ClinGen TOPMed gnomAD
CA5303905 rs776063928	883	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1431589918 CA375376865	883	R>W		No	ClinGen TOPMed gnomAD
rs776167423 CA5303902	887	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1375528516 CA375376831	888	G>A		No	ClinGen gnomAD
CA375376835 rs1564224445	888	G>R		No	ClinGen Ensembl
rs149083027 CA5303900	889	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5303901 rs143209866	889	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200907932 rs375124486	891	V>F		No	ClinGen ESP TOPMed
CA5303899 rs773078165	893	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5303897 rs747935608	894	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1252512023 CA375376787	895	A>V		No	ClinGen TOPMed
CA5303896 rs370690294	896	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs376030443 CA200907928	897	S>F		No	ClinGen ESP
rs1026856324 CA200907926 COSM1460770	901	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA375376753 rs1455120280	901	R>H		No	ClinGen gnomAD
rs1455120280 CA375376752	901	R>L		No	ClinGen gnomAD
CA200907923 rs996566211	902	M>V		No	ClinGen TOPMed
rs568299176 CA5303895	904	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5303894 rs746054003	908	K>Q		No	ClinGen ExAC gnomAD
rs781302534 CA5303893	908	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5303891 rs370951865	909	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA375376695 rs1471036912	910	A>T		No	ClinGen gnomAD
CA5303889 rs764693552	911	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5303888 rs759013918	912	G>D		No	ClinGen ExAC gnomAD
rs1445102031 CA375376683	912	G>S		No	ClinGen TOPMed gnomAD
CA375376670 rs1260928782	914	F>L		No	ClinGen gnomAD

No associated diseases with Q12967

3 regional properties for Q12967

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	49 - 333	IPR000719
active_site	Serine/threonine-protein kinase, active site	166 - 178	IPR008271
binding_site	Protein kinase, ATP binding site	55 - 78	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Localizes mainly in the peripheral region of the cytoplasmic membrane in oocytes and in preimplantation embryos until the 8-cell stage Between the late 1-cell and the early 2-cell stages, nuclear localization becomes stronger After the 4-cell stage, not detected in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
brush border	The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
GTPase regulator activity	Binds to and modulates the activity of a GTPase.
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

2 GO annotations of biological process

Name	Definition
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07890	SOS2	Son of sevenless homolog 2	Homo sapiens (Human)	SS
Q07889	SOS1	Son of sevenless homolog 1	Homo sapiens (Human)	EV
Q13905	RAPGEF1	Rap guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
O95398	RAPGEF3	Rap guanine nucleotide exchange factor 3	Homo sapiens (Human)	EV
Q8WZA2	RAPGEF4	Rap guanine nucleotide exchange factor 4	Homo sapiens (Human)	SS
Q8N431	RASGEF1C	Ras-GEF domain-containing family member 1C	Homo sapiens (Human)	PR
Q8N9B8	RASGEF1A	Ras-GEF domain-containing family member 1A	Homo sapiens (Human)	PR
Q8IZJ4	RGL4	Ral-GDS-related protein	Homo sapiens (Human)	PR
O95267	RASGRP1	RAS guanyl-releasing protein 1	Homo sapiens (Human)	EV
Q8TDF6	RASGRP4	RAS guanyl-releasing protein 4	Homo sapiens (Human)	SS
Q7LDG7	RASGRP2	RAS guanyl-releasing protein 2	Homo sapiens (Human)	EV SS
Q8IV61	RASGRP3	Ras guanyl-releasing protein 3	Homo sapiens (Human)	SS
Q86X27	RALGPS2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Homo sapiens (Human)	PR
Q5JS13	RALGPS1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Homo sapiens (Human)	PR
Q03385	Ralgds	Ral guanine nucleotide dissociation stimulator	Mus musculus (Mouse)	PR
Q03386	Ralgds	Ral guanine nucleotide dissociation stimulator	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVQRMWAEAA	GPAGGAEPLF	PGSRRSRSVW	DAVRLEVGVP	DSCPVVLHSF	TQLDPDLPRP
70	80	90	100	110	120
ESSTQEIGEE	LINGVIYSIS	LRKVQLHHGG	NKGQRWLGYE	NESALNLYET	CKVRTVKAGT
130	140	150	160	170	180
LEKLVEHLVP	AFQGSDLSYV	TIFLCTYRAF	TTTQQVLDLL	FKRYGRCDAL	TASSRYGCIL
190	200	210	220	230	240
PYSDEDGGPQ	DQLKNAISSI	LGTWLDQYSE	DFCQPPDFPC	LKQLVAYVQL	NMPGSDLERR
250	260	270	280	290	300
AHLLLAQLEH	SEPIEAEPEA	LSPVPALKPT	PELELALTPA	RAPSPVPAPA	PEPEPAPTPA
310	320	330	340	350	360
PGSELEVAPA	PAPELQQAPE	PAVGLESAPA	PALELEPAPE	QDPAPSQTLE	LEPAPAPVPS
370	380	390	400	410	420
LQPSWPSPVV	AENGLSEEKP	HLLVFPPDLV	AEQFTLMDAE	LFKKVVPYHC	LGSIWSQRDK
430	440	450	460	470	480
KGKEHLAPTI	RATVTQFNSV	ANCVITTCLG	NRSTKAPDRA	RVVEHWIEVA	RECRILKNFS
490	500	510	520	530	540
SLYAILSALQ	SNSIHRLKKT	WEDVSRDSFR	IFQKLSEIFS	DENNYSLSRE	LLIKEGTSKF
550	560	570	580	590	600
ATLEMNPKRA	QKRPKETGII	QGTVPYLGTF	LTDLVMLDTA	MKDYLYGRLI	NFEKRRKEFE
610	620	630	640	650	660
VIAQIKLLQS	ACNNYSIAPD	EQFGAWFRAV	ERLSETESYN	LSCELEPPSE	SASNTLRTKK
670	680	690	700	710	720
NTAIVKRWSD	RQAPSTELST	SGSSHSKSCD	QLRCGPYLSS	GDIADALSVH	SAGSSSSDVE
730	740	750	760	770	780
EINISFVPES	PDGQEKKFWE	SASQSSPETS	GISSASSSTS	SSSASTTPVA	ATRTHKRSVS
790	800	810	820	830	840
GLCNSSSALP	LYNQQVGDCC	IIRVSLDVDN	GNMYKSILVT	SQDKAPAVIR	KAMDKHNLEE
850	860	870	880	890	900
EEPEDYELLQ	ILSDDRKLKI	PENANVFYAM	NSTANYDFVL	KKRTFTKGVK	VKHGASSTLP
910
RMKQKGLKIA	KGIF