AiPD: Autoinhibited Protein Database

Q6ZTQ3

Gene name	RASSF6
Protein name	Ras association domain-containing protein 6
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:166824
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-55 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-55 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q6ZTQ3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6ZTQ3-F1	Predicted				AlphaFoldDB

399 variants for Q6ZTQ3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs769664243 CA2961526	3	W>R		No	ClinGen ExAC TOPMed gnomAD
CA2961524 rs776697193	8	A>T		No	ClinGen ExAC gnomAD
rs770758758 CA2961523	9	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1373400162 CA357268953	10	P>T		No	ClinGen gnomAD
CA2961522 rs746540933	11	A>E		No	ClinGen ExAC TOPMed gnomAD
CA357268945 rs746540933	11	A>G		No	ClinGen ExAC TOPMed gnomAD
CA357268946 rs1326837390	11	A>S		No	ClinGen gnomAD
CA99723110 rs746540933	11	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1352864536 CA357268942	12	P>S		No	ClinGen gnomAD
rs564308942 CA99723098	13	A>G		No	ClinGen 1000Genomes TOPMed
CA99723101 rs375387325	13	A>T		No	ClinGen ESP TOPMed gnomAD
CA357268932 rs778511521	14	R>L		No	ClinGen ExAC TOPMed gnomAD
CA357268933 rs778511521	14	R>P		No	ClinGen ExAC TOPMed gnomAD
rs778511521 CA2961518	14	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2961519 rs747745050	14	R>W		No	ClinGen ExAC gnomAD
CA99723085 rs963934279	15	A>T		No	ClinGen Ensembl
rs755379206 CA2961517	16	S>P		No	ClinGen ExAC TOPMed
CA357268923 rs1287782820	16	S>W		No	ClinGen TOPMed
rs1253196248 CA357268916	17	D>V		No	ClinGen gnomAD
rs1177648394 CA357268912	18	L>F		No	ClinGen gnomAD
CA357268902 rs1479359337	19	P>L		No	ClinGen TOPMed gnomAD
CA2961516 rs754152434	20	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs754152434 CA357268898	20	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs754152434 CA99723077	20	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA357268768 rs1271522758	22	I>T		No	ClinGen gnomAD
rs879379475 CA99719194	23	S>A		No	ClinGen gnomAD
rs768304584 CA2961481	26	H>L		No	ClinGen ExAC TOPMed gnomAD
rs72863093 CA2961480	27	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375044133 CA357268729	28	K>I		No	ClinGen gnomAD
rs939823452 CA99719178	28	K>N		No	ClinGen Ensembl
CA357268726 rs1327951257	29	K>E		No	ClinGen TOPMed gnomAD
rs867402657 CA99719174	29	K>N		No	ClinGen Ensembl
rs1296117257 CA357268723	29	K>R		No	ClinGen TOPMed gnomAD
CA357268724 rs1296117257	29	K>T		No	ClinGen TOPMed gnomAD
rs780490961 CA2961479	31	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770104889 CA2961478	32	K>R		No	ClinGen ExAC TOPMed gnomAD
CA357268702 rs770104889	32	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2961477 rs746213803	33	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	33	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426955701 CA357268689	34	T>A		No	ClinGen TOPMed gnomAD
rs1426955701 CA357268688	34	T>S		No	ClinGen TOPMed gnomAD
CA2961475 RCV000901575 rs140508928	35	M>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781778944 CA2961476	35	M>V		No	ClinGen ExAC gnomAD
CA99719158 rs751692280	37	A>S		No	ClinGen ExAC TOPMed gnomAD
rs751692280 CA2961474	37	A>T		No	ClinGen ExAC TOPMed gnomAD
CA357268658 rs1460976437	38	H>Q		No	ClinGen gnomAD
rs1299415772 CA357268664	38	H>Y		No	ClinGen TOPMed
rs1366372405 CA357268654	39	Q>*		No	ClinGen TOPMed
rs201601562 CA2961473	40	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1169557722 CA357268639	41	P>S		No	ClinGen gnomAD
CA2961471 rs752908617	44	I>F		No	ClinGen ExAC
rs1560461700 CA357268611	45	F>Y		No	ClinGen Ensembl
CA2961470 rs565442138	46	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1452232629 CA357268593	47	N>K		No	ClinGen gnomAD
rs1195759624 CA357268596	47	N>S		No	ClinGen gnomAD
rs540453702 CA2961469	48	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573411959 CA2961468	48	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs148300300 CA2961467	50	T>K		No	ClinGen ESP ExAC gnomAD
rs1251817525 CA357268566	51	F>L		No	ClinGen TOPMed gnomAD
CA357268557 rs1210793268	53	T>A		No	ClinGen TOPMed
rs761675527 CA2961466	53	T>I		No	ClinGen ExAC gnomAD
rs555095906 CA2961465	54	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357268416 rs1281639610	55	E>*		No	ClinGen TOPMed gnomAD
CA357268420 rs1281639610	55	E>K		No	ClinGen TOPMed gnomAD
CA2961433 rs773919185	56	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA99709835 rs922321723	57	L>R		No	ClinGen TOPMed
CA2961432 rs772616485	57	L>V		No	ClinGen ExAC gnomAD
CA357268357 rs748193699	59	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2961431 rs748193699	59	S>Y		No	ClinGen ExAC gnomAD
CA357268353 rs1233199823	60	L>*		No	ClinGen gnomAD
rs891355849 CA99709833	62	K>T		No	ClinGen TOPMed
rs144226099 CA2961430	63	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749464698 CA2961428	64	Y>C		No	ClinGen ExAC gnomAD
rs1326254783 CA357268271	66	I>V		No	ClinGen gnomAD
CA357268232 rs1402720338	68	Y>*		No	ClinGen gnomAD
rs1316469416 CA357268239	68	Y>C		No	ClinGen gnomAD
TCGA novel	68	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149169434 CA2961425	69	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2961424 rs145319675	71	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	73	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1578047342 COSM3940941 CA357268185 COSM3940940	75	H>Y	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1396000949 CA357268167	77	L>F		No	ClinGen TOPMed
CA99709778 rs1043828717	78	Y>F		No	ClinGen TOPMed
TCGA novel	79	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763950278 CA2961422	80	E>G		No	ClinGen ExAC gnomAD
TCGA novel	81	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357267709 rs1294259857	81	T>S		No	ClinGen gnomAD
rs762063006 CA2961394	82	E>G		No	ClinGen ExAC gnomAD
CA357267704 rs1205412024	82	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1018840947 CA99705028	83	D>G		No	ClinGen TOPMed
CA357267697 rs1344412774	83	D>Y		No	ClinGen Ensembl
CA99705021 rs1050457157	84	G>V		No	ClinGen gnomAD
rs933366855 CA99704997	85	K>N		No	ClinGen gnomAD
rs769149093 CA2961392	88	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2961391 rs763079941	89	E>A		No	ClinGen ExAC TOPMed gnomAD
rs763079941 CA357267613	89	E>G		No	ClinGen ExAC TOPMed gnomAD
CA357267594 rs1455361779	90	G>A		No	ClinGen gnomAD
rs1455361779 COSM1694551 COSM1694550 CA357267597	90	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs775479996 CA2961390	92	L>M		No	ClinGen ExAC gnomAD
CA357267566 rs1176069960	93	D>N		No	ClinGen gnomAD
CA2961389 rs147956059	94	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM231028 rs201386921 CA2961388 COSM231029	96	W>*	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2961387 rs781248819 COSM231028 COSM231029	96	W>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	97	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771938641 CA2961386	97	G>R		No	ClinGen ExAC gnomAD
CA357267489 rs1578040298	98	V>E		No	ClinGen Ensembl
rs1428783905 CA357267493	98	V>I		No	ClinGen TOPMed
rs1453020370 CA357267469	99	K>N		No	ClinGen Ensembl
CA357267463 rs1302260242	100	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778964563 CA2961383	102	I>M		No	ClinGen ExAC gnomAD
rs1271959539 CA357267442	102	I>V		No	ClinGen TOPMed
rs891318237 CA99704943	103	Q>K		No	ClinGen Ensembl
CA357267404 rs1218806954	104	L>P		No	ClinGen TOPMed
rs754902812 CA2961382 COSM196147	106	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA357267386 rs1282399351	106	I>V		No	ClinGen TOPMed
rs373578071 CA357267375	107	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373578071 CA2961381	107	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755858735 CA2961379	107	Q>H		No	ClinGen ExAC gnomAD
rs750142602 CA2961377	109	E>K		No	ClinGen ExAC gnomAD
CA357267312 rs1416760554	110	K>N		No	ClinGen gnomAD
rs565629425 CA2961376	112	F>L		No	ClinGen 1000Genomes ExAC
rs1225100555 CA357267290	112	F>L		No	ClinGen TOPMed
CA2961375 rs762305384	113	S>F		No	ClinGen ExAC gnomAD
CA2961373 rs144927031	114	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2961372 rs144927031	114	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	115	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA99704842 TCGA novel rs926920170	118	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA357267239 rs1213074105	118	M>R		No	ClinGen TOPMed
rs769910089 CA2961370	120	S>L		No	ClinGen ExAC gnomAD
CA357267208 rs1256764203	122	D>E		No	ClinGen gnomAD
CA357267214 rs1485999386	122	D>H		No	ClinGen TOPMed
CA2961367 rs771040906	123	V>D		No	ClinGen ExAC TOPMed gnomAD
rs114233966 CA2961368	123	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357267203 rs561748881	124	F>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2961366 rs561748881	124	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs778780900 CA2961365	124	F>S		No	ClinGen ExAC gnomAD
CA2961364 rs768748092	125	S>F		No	ClinGen ExAC gnomAD
CA357267195 rs1354679166	125	S>P		No	ClinGen gnomAD
rs1560449714 CA357267192	126	S>R		No	ClinGen Ensembl
rs369603960 CA99704785	127	K>R		No	ClinGen ESP TOPMed gnomAD
rs376332028 CA2961363	128	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA357267175 rs1287901215	128	G>R		No	ClinGen TOPMed gnomAD
CA2961340 rs780502613	129	M>V		No	ClinGen ExAC gnomAD
rs993668275 CA99700619	130	T>P		No	ClinGen TOPMed
rs756955118 CA2961339	131	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746711144 CA2961338	131	R>H		No	ClinGen ExAC gnomAD
rs756955118 CA99700617	131	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2961337 rs777372783	132	W>*		No	ClinGen ExAC TOPMed gnomAD
CA357266793 rs758827982	132	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2961336 rs758827982	132	W>C		No	ClinGen ExAC TOPMed gnomAD
rs777372783 CA357266817	132	W>S		No	ClinGen ExAC TOPMed gnomAD
rs765743192 CA2961334	133	G>E		No	ClinGen ExAC TOPMed gnomAD
rs753044161 CA2961335	133	G>R		No	ClinGen ExAC TOPMed gnomAD
COSM139524 rs150722385 COSM139525 CA2961333	134	E>K	skin breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs142098884 CA2961332	134	E>V		No	ClinGen ExAC TOPMed gnomAD
CA357266754 rs1324875827	135	F>L		No	ClinGen TOPMed gnomAD
CA2961330 rs148631523	135	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357266732 rs564196327	136	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773612529 CA2961329	136	D>V		No	ClinGen ExAC gnomAD
rs143969358 CA357266728	137	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2961327 rs143969358	137	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs143969358 CA2961326	137	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2961325 rs769777926	138	L>F		No	ClinGen ExAC TOPMed gnomAD
CA357266684 rs776608439	139	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2961323 rs776608439	139	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA2961324 rs745742979	139	Y>H		No	ClinGen ExAC gnomAD
COSM84859 CA2961322 rs142555062	140	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM340229 rs199524298 CA2961320 COSM340230	140	R>H	lung endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs199524298 CA2961321	140	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142555062 CA357266663	140	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2961318 rs748513845	141	I>M		No	ClinGen ExAC
rs572313609 CA2961319	141	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2961317 rs779104873	142	S>R		No	ClinGen ExAC gnomAD
CA357266613 rs1249680671	142	S>T		No	ClinGen gnomAD
rs1459398918 CA357266576	143	E>D		No	ClinGen TOPMed gnomAD
rs997347353 CA99700445	144	L>P		No	ClinGen Ensembl
rs754354673 CA2961315	145	D>V		No	ClinGen ExAC gnomAD
CA2961314 rs780582863	146	R>K		No	ClinGen ExAC TOPMed gnomAD
CA357266505 rs1578030890	147	T>I		No	ClinGen Ensembl
CA357266491 rs1344720078	148	Q>*		No	ClinGen TOPMed
TCGA novel	150	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2961311 rs762061514 CA2961310	151	M>I		No	ClinGen ExAC gnomAD
rs1206566264 CA357266400	151	M>V		No	ClinGen TOPMed
CA357266326 rs1306887869	153	E>D		No	ClinGen gnomAD
CA357266281 rs1553902661	155	R>K		No	ClinGen Ensembl
rs573979075 CA2961307	155	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1036279076 CA99700382	156	N>Y		No	ClinGen Ensembl
CA357266253 rs1202190562	157	S>A		No	ClinGen TOPMed
CA357266243 rs776497477	158	Q>E		No	ClinGen ExAC gnomAD
CA2961305 rs776497477	158	Q>K		No	ClinGen ExAC gnomAD
rs760187564 CA2961303	160	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760187564 CA2961304	160	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA99698426 rs895838549	161	Y>C		No	ClinGen TOPMed gnomAD
CA2961280 VAR_026725 rs12507775	163	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1228298352 CA357265046	165	H>R		No	ClinGen TOPMed gnomAD
rs773946100 CA2961279	166	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1174491867 CA357265019	166	S>R		No	ClinGen TOPMed
rs768346066 CA357264997	167	N>K		No	ClinGen ExAC TOPMed gnomAD
CA357264990 rs1578026870	168	T>P		No	ClinGen Ensembl
CA357264964 rs1415898377	171	P>S		No	ClinGen TOPMed
rs1318825389 CA357264942	174	K>T		No	ClinGen gnomAD
rs1437333353 CA357264932	175	D>E		No	ClinGen gnomAD
CA357264938 rs1578026817	175	D>N		No	ClinGen Ensembl
CA2961277 rs749627935	176	E>D		No	ClinGen ExAC gnomAD
rs149265579 CA2961276	177	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357264915 rs1415880710	178	D>A		No	ClinGen gnomAD
CA357264910 rs1163564438	179	S>T		No	ClinGen gnomAD
rs1004421268 CA99698360	182	L>F		No	ClinGen TOPMed gnomAD
rs1004421268 CA357264892	182	L>I		No	ClinGen TOPMed gnomAD
rs200963327 CA2961274	184	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781754338 CA2961273	185	T>N		No	ClinGen ExAC gnomAD
rs757477815 CA2961272	186	M>I		No	ClinGen ExAC gnomAD
rs1221464943 CA357264867	186	M>V		No	ClinGen gnomAD
rs747097538 CA2961271	189	A>G		No	ClinGen ExAC gnomAD
CA99698336 rs902988275	190	A>G		No	ClinGen gnomAD
rs370708261 CA2961270	191	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753603734 CA2961268	192	V>G		No	ClinGen ExAC
rs758575865 CA2961269	192	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2961267 rs766111435	195	R>K		No	ClinGen ExAC TOPMed
CA357264698 rs1230965373	196	M>L		No	ClinGen gnomAD
CA357264682 rs1366019565	197	K>N		No	ClinGen gnomAD
CA2961266 rs755878095	199	L>R		No	ClinGen ExAC TOPMed gnomAD
CA357264668 rs536795229	200	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2961265 rs536795229	200	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357264642 rs1218536769	203	R>I		No	ClinGen TOPMed
CA357264626 rs1368525254	205	E>D		No	ClinGen gnomAD
CA2961264 rs767441299	205	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA2961263 rs761290627	206	R>G		No	ClinGen ExAC gnomAD
rs773858767 CA2961262	206	R>K		No	ClinGen ExAC
rs762628103 CA2961260	206	R>S		No	ClinGen ExAC TOPMed gnomAD
rs775742324 CA2961259	207	Q>K		No	ClinGen ExAC
rs1394102721 CA357264618	207	Q>R		No	ClinGen gnomAD
CA357264612 rs1188902663	208	K>E		No	ClinGen gnomAD
rs746229531 CA2961256	209	N>S		No	ClinGen ExAC gnomAD
rs777334660 CA2961255	210	R>T		No	ClinGen ExAC gnomAD
CA2961251 rs569492337	212	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2961252 rs569492337	212	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs758569218 CA2961250	213	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	216	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2961248 TCGA novel rs141864264	217	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	218	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750208954 CA2961245	220	H>R		No	ClinGen ExAC gnomAD
CA99698158 rs915369682	220	H>Y		No	ClinGen TOPMed gnomAD
CA357264202 rs1578021751	224	I>M		No	ClinGen Ensembl
CA357264204 rs1484318848	224	I>T		No	ClinGen gnomAD
CA2961228 rs772231070	224	I>V		No	ClinGen ExAC gnomAD
rs748174834 CA2961227	225	F>S		No	ClinGen ExAC TOPMed gnomAD
CA99695453 rs531819229	227	P>A		No	ClinGen 1000Genomes gnomAD
CA99695446 rs765392964	230	E>Q		No	ClinGen TOPMed gnomAD
CA357264160 rs1436232499	231	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2961225 rs768809678	233	T>A		No	ClinGen ExAC gnomAD
rs1320885544 CA357264126	234	K>N		No	ClinGen gnomAD
CA99695434 rs564560270	234	K>R		No	ClinGen 1000Genomes
CA357264123 rs745667189	235	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA357264121 rs745667189	235	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2961224 rs745667189	235	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	236	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357264098 rs1229836062	237	V>I		No	ClinGen TOPMed gnomAD
rs1379384057 CA357264089	238	N>D		No	ClinGen gnomAD
rs1319507239 CA357264084	238	N>S		No	ClinGen gnomAD
CA2961222 rs780928803	241	M>I		No	ClinGen ExAC TOPMed gnomAD
rs757168445 CA2961221	242	R>I		No	ClinGen ExAC gnomAD
CA357263992 rs1323122623	243	T>A		No	ClinGen gnomAD
CA357263982 rs1400059675	243	T>I		No	ClinGen gnomAD
rs1454820929 CA357263979	244	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	245	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1032458000 CA99695394	245	E>K		No	ClinGen Ensembl
rs1301386705 CA357263938	246	V>I		No	ClinGen TOPMed
rs72649118 CA2961220	247	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357263904 rs1578021526	248	K>E		No	ClinGen Ensembl
CA99695362 rs953278587	250	L>P		No	ClinGen Ensembl
CA357263845 rs1163047148	251	L>H		No	ClinGen gnomAD
rs1425945840 CA357263834	252	Q>L		No	ClinGen gnomAD
CA357263812 rs187711109	253	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	253	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357263710 rs1375087265	256	I>F		No	ClinGen TOPMed
rs765940716 CA2961194	256	I>M		No	ClinGen ExAC gnomAD
CA2961195 rs753583875	256	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1328903004 CA357263696	257	E>A		No	ClinGen TOPMed gnomAD
CA357263662 rs1346706259	259	S>G		No	ClinGen gnomAD
rs1307748292 CA357263651 COSM1057458 COSM1057457	259	S>R	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2961192 rs200606029	260	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357263644 rs1209600206	260	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	261	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357263635 rs1372600680	261	Q>K		No	ClinGen gnomAD
COSM1694547 rs1004541335 CA99694870 COSM1694546	262	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA357263602 rs1269567442	263	F>V		No	ClinGen TOPMed
rs971769244 CA99694860	264	A>V		No	ClinGen TOPMed gnomAD
CA2961191 COSM213861 COSM213860 rs768074354	265	L>F	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2961190 rs762268760	265	L>P		No	ClinGen ExAC gnomAD
rs547091097 CA99694832	266	H>N		No	ClinGen Ensembl
CA2961189 rs774441446	266	H>R		No	ClinGen ExAC gnomAD
CA357263539 rs1578020835	267	I>N		No	ClinGen Ensembl
CA2961187 rs150198839	267	I>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	269	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357263487 rs1560440159	270	A>P		No	ClinGen Ensembl
CA99694822 rs1009059325	270	A>V		No	ClinGen TOPMed gnomAD
rs746820960 CA2961183	271	T>I		No	ClinGen ExAC gnomAD
rs746820960 CA2961184	271	T>R		No	ClinGen ExAC gnomAD
CA2961181 rs148110920	272	G>E		No	ClinGen ESP ExAC gnomAD
CA2961182 rs772838586	272	G>R		No	ClinGen ExAC gnomAD
rs957566469 CA99691167	273	E>G		No	ClinGen Ensembl
CA357262632 rs1175631102	274	Q>R		No	ClinGen TOPMed
rs776889884 CA2961165	276	R>*		No	ClinGen ExAC TOPMed gnomAD
rs772032970 CA2961164	276	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA357262592 rs1458690739	280	T>I		No	ClinGen gnomAD
rs747950870 CA2961163	281	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2961162 rs200656717	281	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	282	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2961160 rs141700472	283	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2961157 rs745561148	284	L>P		No	ClinGen ExAC gnomAD
rs780870800 CA2961156	285	L>P		No	ClinGen ExAC gnomAD
CA99691118 rs768750163	287	R>G		No	ClinGen Ensembl
CA357262556 rs1416408035	287	R>K		No	ClinGen gnomAD
rs757688449 CA357262550	288	L>F		No	ClinGen ExAC gnomAD
rs757688449 CA2961155	288	L>I		No	ClinGen ExAC gnomAD
rs1210058589 CA357262547	288	L>R		No	ClinGen gnomAD
CA2961152 rs146894207	290	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2961153 rs146894207	290	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209574796 CA357262530	291	G>V		No	ClinGen gnomAD
rs752839642 CA2961151	292	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2961149 rs759628715	297	A>G		No	ClinGen ExAC gnomAD
COSM1430937 rs149223773 COSM1430938 CA2961150	297	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA
rs754072709 CA2961148	298	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2961146 rs145420998	298	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2961147 rs145420998	298	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774224075 CA2961145	299	I>V		No	ClinGen ExAC gnomAD
rs762751180 CA2961143	300	F>S		No	ClinGen ExAC TOPMed gnomAD
rs775480284 CA2961142	301	L>F		No	ClinGen ExAC gnomAD
rs1403371412 CA357262463	302	M>I		No	ClinGen gnomAD
CA2961141 rs769231732	303	D>G		No	ClinGen ExAC gnomAD
rs1488665768 CA357262459	303	D>N		No	ClinGen TOPMed
CA357262444 rs1163820601	305	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs17804499 VAR_034440 CA2961140	306	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357262437 rs1190636090	306	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA357262431 rs1435170201	307	E>K		No	ClinGen TOPMed
CA357262423 rs1189877342	308	E>Q		No	ClinGen gnomAD
rs780883557 CA2961139	310	S>G		No	ClinGen ExAC gnomAD
rs778059763 CA2961136	312	D>E		No	ClinGen ExAC gnomAD
rs770500912 CA2961138	312	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2961113 rs748531577	313	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2961112 rs557320069	314	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1217557675 CA357262352	316	Y>*		No	ClinGen gnomAD
CA357262358 rs1458934083	316	Y>H		No	ClinGen TOPMed
TCGA novel	319	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408960531 CA357262324	320	H>P		No	ClinGen gnomAD
rs755448105 CA2961111	322	S>C		No	ClinGen ExAC gnomAD
rs1375632160 CA357262312	322	S>T		No	ClinGen TOPMed
CA357262305 rs1311967734	323	L>F		No	ClinGen TOPMed
rs1381216585 CA357262303	323	L>P		No	ClinGen gnomAD
CA357262291 rs1179018121	325	E>*		No	ClinGen TOPMed gnomAD
CA2961109 rs78477189	325	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750718269 CA2961107	326	S>F		No	ClinGen ExAC gnomAD
rs1323583490 CA357262276	326	S>P		No	ClinGen TOPMed
rs1214350458 CA357262248	327	I>S		No	ClinGen TOPMed
CA357262237 rs1331570597	328	L>F		No	ClinGen gnomAD
rs144044857 CA2961106	328	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1432043906 CA357262220	329	Q>R		No	ClinGen gnomAD
CA357262183 rs1456643153	331	L>S		No	ClinGen TOPMed
CA357262156 rs1410302418	332	N>K		No	ClinGen TOPMed gnomAD
TCGA novel	333	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752481961 CA2961104	333	E>K		No	ClinGen ExAC gnomAD
rs765115658 CA357262101	335	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2961102 rs759467063	337	R>G		No	ClinGen ExAC gnomAD
TCGA novel	337	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2961101 rs776523714	337	R>S		No	ClinGen ExAC gnomAD
CA357262074 rs1291326771	337	R>T		No	ClinGen TOPMed gnomAD
CA357262051 CA357262048 rs1462742398	338	E>D		No	ClinGen TOPMed gnomAD
rs765909580 CA2961099	342	I>M		No	ClinGen ExAC gnomAD
CA2961098 rs760173255	343	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1326807004 CA357261926	343	V>L		No	ClinGen gnomAD
TCGA novel	344	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377941200 CA357261899	344	T>A		No	ClinGen gnomAD
CA2961096 rs372771575	345	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs552565252 CA2961079	347	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1187962397 CA357261736	348	K>E		No	ClinGen gnomAD
CA357261687 rs1282223905	350	K>N		No	ClinGen Ensembl
rs527690668 CA2961078	351	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2961077 rs139264959	351	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2961075 rs370526235	352	I>F		No	ClinGen ExAC gnomAD
CA2961074 rs769104844	352	I>T		No	ClinGen ExAC gnomAD
rs370526235 CA99690691	352	I>V		No	ClinGen ExAC gnomAD
rs1332659051 CA357261673	353	I>M		No	ClinGen TOPMed
CA2961073 rs749669688	353	I>T		No	ClinGen ExAC gnomAD
rs1560435812 CA357261669	354	L>P		No	ClinGen Ensembl
CA357261650 rs1578012002	357	L>V		No	ClinGen Ensembl
CA2961070 rs745953087	358	Q>P		No	ClinGen ExAC gnomAD
rs267600251 CA99690659	360	K>I		No	ClinGen Ensembl
rs1383335408 CA357261574	363	I>K		No	ClinGen TOPMed gnomAD
CA2961067 rs781727261	363	I>M		No	ClinGen ExAC TOPMed gnomAD
rs141822977 CA2961066	365	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	366	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2961063 rs188163946	367	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2961062 rs542116079	367	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542116079 CA2961061	367	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2961059 rs369818308	368	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487027808 CA357261498	369	V>I		No	ClinGen TOPMed
rs1487027808 CA357261500	369	V>L		No	ClinGen TOPMed
CA357261479 rs1374931030	370	V>W		No	ClinGen gnomAD

No associated diseases with Q6ZTQ3

2 regional properties for Q6ZTQ3

Type	Name	Position	InterPro Accession
domain	Ras-associating domain	216 - 306	IPR000159
domain	SARAH domain	313 - 360	IPR011524

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8WWW0	RASSF5	Ras association domain-containing protein 5	Homo sapiens (Human)	PR
Q9NS23	RASSF1	Ras association domain-containing protein 1	Homo sapiens (Human)	PR
Q5EBH1	Rassf5	Ras association domain-containing protein 5	Mus musculus (Mouse)	PR
Q99MK9	Rassf1	Ras association domain-containing protein 1	Mus musculus (Mouse)	PR
Q80UQ2	Rassf6	Ras association domain-containing protein 6	Mus musculus (Mouse)	PR
O35141	Rassf5	Ras association domain-containing protein 5	Rattus norvegicus (Rat)	PR
Q4QR82	Rassf6	Ras association domain-containing protein 6	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MLWEETGAAP	APARASDLPY	RISSDHLKKE	EKMTMMAHQY	PSWIFINEKT	FITREQLNSL
70	80	90	100	110	120
LKTYNIFYEN	QKNLHILYGE	TEDGKLIVEG	MLDIFWGVKR	PIQLKIQDEK	PFSSFTSMKS
130	140	150	160	170	180
SDVFSSKGMT	RWGEFDDLYR	ISELDRTQIP	MSEKRNSQED	YLSYHSNTLK	PHAKDEPDSP
190	200	210	220	230	240
VLYRTMSEAA	LVRKRMKPLM	MDRKERQKNR	ASINGHFYNH	ETSIFIPAFE	SETKVRVNSN
250	260	270	280	290	300
MRTEEVIKQL	LQKFKIENSP	QDFALHIIFA	TGEQRRLKKT	DIPLLQRLLQ	GPSEKNARIF
310	320	330	340	350	360
LMDKDAEEIS	SDVAQYINFH	FSLLESILQR	LNEEEKREIQ	RIVTKFNKEK	AIILKCLQNK

LVIKTETTV