AiPD: Autoinhibited Protein Database

Q6ZRI8

Gene name	ARHGAP36
Protein name	Rho GTPase-activating protein 36
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:158763
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

138-217 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

138-217 (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 Q6ZRI8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6ZRI8-F1	Predicted				AlphaFoldDB

333 variants for Q6ZRI8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1335634240 CA414668506	6	P>T		No	ClinGen TOPMed
CA414668537 rs1304269535	10	A>G		No	ClinGen TOPMed
CA10517224 rs765688529	12	R>S		No	ClinGen ExAC gnomAD
CA10517225 rs757824266	13	A>V		No	ClinGen ExAC TOPMed gnomAD
CA414668557 rs1311964635	14	L>V		No	ClinGen TOPMed
rs1420229411 CA414668561	15	C>S		No	ClinGen gnomAD
CA10517226 rs778383720	20	P>T		No	ClinGen ExAC gnomAD
CA414668625 rs1432409989	24	L>W		No	ClinGen TOPMed
rs1385758857 CA414668642 COSM1651016	27	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA414668645 rs1569367717	27	A>V		No	ClinGen Ensembl
rs375021065 CA10517228	28	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10517229 rs781636488	30	F>C		No	ClinGen ExAC gnomAD
CA414668670 rs1375381202	31	L>*		No	ClinGen gnomAD
CA10517230 rs141982499	32	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10517231 rs770199691	34	V>D		No	ClinGen ExAC gnomAD
rs113514503 CA335788993	37	G>E		No	ClinGen ExAC gnomAD
rs113514503 CA10517232	37	G>V		No	ClinGen ExAC gnomAD
CA10517233 rs766957043	38	A>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	39	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	40	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10517234 rs768581840	40	G>V		No	ClinGen ExAC gnomAD
CA414668732 rs1189501089	41	H>Y		No	ClinGen TOPMed
CA10517235 rs773226775	42	N>K		No	ClinGen ExAC TOPMed gnomAD
CA335788994 rs866982707	43	P>H		No	ClinGen Ensembl
CA414668754 rs1485970316	44	D>G		No	ClinGen gnomAD
rs878929394 CA335788995	45	R>C		No	ClinGen TOPMed gnomAD
CA10517237 rs368664815	45	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10517238 rs368664815	45	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA414668758 rs878929394	45	R>S		No	ClinGen TOPMed gnomAD
CA414668773 rs1288631219	47	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA335788997 rs866059961	49	M>I		No	ClinGen Ensembl
rs1206047532 CA414668786	49	M>T		No	ClinGen TOPMed
rs1350371224 CA414668790	50	V>I		No	ClinGen TOPMed
CA335788998 rs886953744	52	I>V		No	ClinGen TOPMed gnomAD
CA414668812 rs1364616603	53	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1247622488 CA414668810	53	H>Y		No	ClinGen TOPMed
rs1334925847 CA414668818	54	S>G		No	ClinGen TOPMed
CA10517239 rs759308919	54	S>N		No	ClinGen ExAC gnomAD
CA10517240 rs764918160	54	S>R		No	ClinGen ExAC TOPMed gnomAD
CA414668826 rs1394960172	55	L>P		No	ClinGen gnomAD
rs1435847344 CA414668831	56	S>C		No	ClinGen gnomAD
rs1435847344 CA414668832	56	S>F		No	ClinGen gnomAD
rs1315439148 CA414668835	57	E>Q		No	ClinGen gnomAD
CA10517242 rs757955720	58	L>M		No	ClinGen ExAC gnomAD
CA10517243 rs763462042	60	R>P		No	ClinGen ExAC gnomAD
rs781761391 CA10517246	68	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	69	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414668918 rs1302033805	69	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1438016907 CA414668916	69	H>R		No	ClinGen gnomAD
CA10517247 rs746284701	72	V>L		No	ClinGen ExAC
TCGA novel	74	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10517248 rs200726448	75	H>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1381492361 CA414668969	77	L>F		No	ClinGen TOPMed
TCGA novel	78	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866578619 CA335788999	79	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10517249 rs780458857	80	F>L		No	ClinGen ExAC gnomAD
CA10517250 rs749424993	82	P>R		No	ClinGen ExAC gnomAD
rs1196168024 CA414669012	83	D>E		No	ClinGen gnomAD
rs1251466995 CA414669021	85	A>T		No	ClinGen gnomAD
CA414669046 rs1455046486	87	P>S		No	ClinGen TOPMed
CA414669051 rs1245652145	88	I>V		No	ClinGen TOPMed
TCGA novel	89	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414669058 rs1260194575	89	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10517270 rs754092471	90	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10517271 rs755218408	90	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10517272 rs755218408	90	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1225742730 CA414669081	92	N>K		No	ClinGen Ensembl
rs1175798116 CA414669093	94	L>F		No	ClinGen TOPMed gnomAD
rs138987601 CA10517274	95	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10517276 rs144633331	96	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769587671 CA10517277 CA414669115	97	W>C		No	ClinGen ExAC gnomAD
CA414669118 rs1164774372	98	F>L		No	ClinGen gnomAD
CA414669142 rs1458960784	101	L>F		No	ClinGen gnomAD
rs867531126 CA335789124	103	G>R		No	ClinGen Ensembl
rs775216832 CA10517278	106	R>T		No	ClinGen ExAC gnomAD
rs986728985 CA335789174	108	V>A		No	ClinGen TOPMed
CA414669207 rs1569368478	110	H>N		No	ClinGen Ensembl
CA414669214 rs1362692388	110	H>Q		No	ClinGen gnomAD
rs750983231 CA10517284	111	K>N		No	ClinGen ExAC gnomAD
CA414669251 rs1373589834	116	S>N		No	ClinGen gnomAD
CA10517285 rs761200728	116	S>R		No	ClinGen ExAC gnomAD
rs754209656 CA10517287	122	V>E		No	ClinGen ExAC TOPMed
CA10517291 rs758494381	124	E>D		No	ClinGen ExAC gnomAD
rs779039622 CA10517290	124	E>G		No	ClinGen ExAC
rs975170998 CA335789176	124	E>Q		No	ClinGen TOPMed
rs779039622 CA10517289	124	E>V		No	ClinGen ExAC
CA335789177 rs145981387	126	T>I		No	ClinGen ESP TOPMed gnomAD
rs769680000 CA10517294	126	T>P		No	ClinGen ExAC gnomAD
rs778002878 CA335789178	127	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs931500314 CA335789179	128	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA414669324 rs1484991750	128	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA414669325 rs1484991750	128	R>L		No	ClinGen TOPMed gnomAD
CA335789180 rs983394546	132	E>K		No	ClinGen Ensembl
CA414669360 rs1210861059	133	L>R		No	ClinGen gnomAD
rs1258622844 CA414669366	134	T>I		No	ClinGen TOPMed gnomAD
rs377417211 CA10517296	135	A>P		No	ClinGen ESP ExAC gnomAD
CA10517297 rs768461002	136	T>K		No	ClinGen ExAC
rs773901316 CA10517298	139	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1291300663 CA414669396	139	V>F		No	ClinGen TOPMed gnomAD
CA414669394 rs1291300663	139	V>I		No	ClinGen TOPMed gnomAD
rs1325945981 CA414669424	143	T>I		No	ClinGen TOPMed
CA414669441 rs1347804086	146	A>T		No	ClinGen TOPMed
rs747747908 CA10517299	147	A>E		No	ClinGen ExAC
COSM1598880 rs146720933 CA10517301	149	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs369574521 CA10517302	150	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs766840004 CA414669465	150	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766840004 CA10517303	150	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766840004 CA414669466	150	R>P		No	ClinGen ExAC TOPMed gnomAD
rs777161305 CA10517304	152	G>R		No	ClinGen ExAC gnomAD
CA10517305 rs759849724 COSM1651014	154	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA414669494 rs1191887756	155	V>A		No	ClinGen TOPMed
TCGA novel	156	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs936361344 CA335789181	156	R>G		No	ClinGen TOPMed gnomAD
CA10517307 rs752928021	156	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10517308 rs752928021	156	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10517309 rs764288637	157	R>M		No	ClinGen ExAC gnomAD
CA414669508 rs1311531400	158	V>A		No	ClinGen gnomAD
rs751688892 CA10517310	161	R>C		No	ClinGen ExAC TOPMed
CA335789182 rs1057296329	161	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	162	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148485340 CA10517311	163	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA335789183 rs866987298	163	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA414669540 rs1274306403	164	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1315659856 CA414669548	165	F>S		No	ClinGen gnomAD
TCGA novel	166	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414669565 rs1234201935	167	S>I		No	ClinGen TOPMed gnomAD
CA414669563 rs1234201935	167	S>N		No	ClinGen TOPMed gnomAD
CA414669572 rs1314237281	168	R>P		No	ClinGen gnomAD
rs1350726623 CA414669594	172	E>K		No	ClinGen TOPMed
TCGA novel	176	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	177	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414669668 rs1250593683	183	G>W		No	ClinGen TOPMed gnomAD
TCGA novel	184	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414669682 rs1603394731	185	R>L		No	ClinGen Ensembl
TCGA novel	186	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335789201 rs375987655	188	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs1603394810 CA414669716	189	S>C		No	ClinGen Ensembl
rs1262989018 CA414669729	191	D>G		No	ClinGen TOPMed
rs1262989018 CA414669728	191	D>V		No	ClinGen TOPMed
rs1248339873 CA414669735	192	S>N		No	ClinGen gnomAD
rs1474374434 CA414669738	192	S>R		No	ClinGen gnomAD
rs1419962558 CA414669776	198	D>G		No	ClinGen gnomAD
rs777596367 CA10517335	200	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10517336 rs746622736	205	T>I		No	ClinGen ExAC gnomAD
CA414669855 rs1327852347	211	I>S		No	ClinGen TOPMed
rs916130102 CA335789202	211	I>V		No	ClinGen Ensembl
rs1460939004 CA414669863	212	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770360336 CA10517337	213	F>L		No	ClinGen ExAC gnomAD
rs1025193472 CA335789203	215	I>T		No	ClinGen TOPMed
CA10517338 COSM1651013 rs780684919	215	I>V	Variant assessed as Somatic; 0.0004373 impact. lung [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	216	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	217	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	220	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778740792 CA335789205	226	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA414669949 rs1423062728	226	M>L		No	ClinGen gnomAD
CA414669951 rs1270186261	226	M>T		No	ClinGen TOPMed gnomAD
CA414669967 rs1341454645	228	L>P		No	ClinGen gnomAD
CA414669982 COSM1598878 rs1220855026	230	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs745365369 CA10517339	232	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763893915 CA10517340	233	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA10517343 rs370581558	241	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10517344 rs774573780	244	Q>K		No	ClinGen ExAC
rs1242650625 CA414670120	250	G>C		No	ClinGen gnomAD
CA335789223 rs370750175 COSM1598877	253	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
CA10517356 rs151036602	255	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745425289 CA10517357	256	I>T		No	ClinGen ExAC TOPMed gnomAD
CA414670217 rs1208685310	263	V>G		No	ClinGen gnomAD
rs769255505 CA10517358	263	V>M		No	ClinGen ExAC TOPMed gnomAD
CA414670236 rs1429487473	266	V>A		No	ClinGen TOPMed
CA414670240 COSM1651012 rs1256533982	267	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA414670238 rs1256533982	267	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs762916133 CA10517369	269	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1349039453 CA414670284	272	E>Q		No	ClinGen TOPMed
CA10517370 rs776548814	273	F>Y		No	ClinGen ExAC
TCGA novel	275	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751427111 CA10517371	276	G>D		No	ClinGen ExAC gnomAD
TCGA novel	280	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286277183 CA414670361	283	D>G		No	ClinGen TOPMed
CA10517372 rs202056670	284	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA414670373 rs1279537251	285	Q>E		No	ClinGen gnomAD
TCGA novel	291	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780930341 CA10517373	292	A>G		No	ClinGen ExAC gnomAD
CA10517374 rs749994409	293	L>V		No	ClinGen ExAC gnomAD
CA10517376 RCV000762670 rs140912896	295	K>R	Variant assessed as Somatic; 0.0001883 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs755540036 CA10517378 COSM1740804	299	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10517379 rs779268950	299	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1377565654 CA414670500	303	D>Y		No	ClinGen gnomAD
CA414670524 rs1603395018	307	P>S		No	ClinGen Ensembl
TCGA novel	307	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771362386 CA335789237	308	D>G		No	ClinGen 1000Genomes
rs748582891 CA10517380	311	Y>S		No	ClinGen ExAC gnomAD
CA335789239 rs906350877	316	L>P		No	ClinGen TOPMed
rs920782800 CA414670616	319	T>I		No	ClinGen TOPMed gnomAD
CA335789263 rs920782800	319	T>S		No	ClinGen TOPMed gnomAD
CA414670633 rs1432650509	322	P>S		No	ClinGen TOPMed
rs1603395132 CA414670639	323	Q>E		No	ClinGen Ensembl
CA414670669 rs1434224355	327	S>P		No	ClinGen gnomAD
CA10517399 rs754449816	333	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1477703080 CA414670713	334	Y>S		No	ClinGen gnomAD
rs1170876416 CA414670718	335	L>M		No	ClinGen gnomAD
CA10517401 rs372255747	338	P>S		No	ClinGen ESP ExAC gnomAD
CA414670796 rs1474435861	346	R>C		No	ClinGen TOPMed gnomAD
CA10517403 rs777932916	346	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs141635498 CA10517404	349	K>R		No	ClinGen ESP ExAC
rs770023095 CA10517405	352	H>R		No	ClinGen ExAC TOPMed gnomAD
CA414670881 rs1194619100	359	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA414670887 rs1325565116	360	D>N		No	ClinGen gnomAD
CA414670899 rs1484548903	361	S>L		No	ClinGen TOPMed
TCGA novel	362	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745977213 CA10517407	367	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA10517424 rs147092847	369	V>I		No	ClinGen ESP ExAC gnomAD
CA10517425 rs746030228	370	P>Q		No	ClinGen ExAC gnomAD
rs769923361 CA10517426	373	R>C		No	ClinGen ExAC gnomAD
rs974805626 CA335789277	373	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	374	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	375	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218047809 CA414671000	375	T>S		No	ClinGen gnomAD
rs1435254971 CA414671038	381	L>V		No	ClinGen gnomAD
rs749377312 CA10517428	382	V>A		No	ClinGen ExAC gnomAD
CA335789278 rs1008595184	383	F>L		No	ClinGen TOPMed
CA335789279 rs201351347	388	L>V		No	ClinGen 1000Genomes
rs1424987781 CA414671088	389	K>R		No	ClinGen gnomAD
CA414671096 rs1156350377	390	K>R		No	ClinGen TOPMed gnomAD
rs267606351 CA335789280	391	G>E		No	ClinGen Ensembl
TCGA novel	391	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1603395221 CA414671116	393	F>Y		No	ClinGen Ensembl
rs771954505 CA335789281	394	G>A		No	ClinGen ExAC TOPMed
CA10517429 rs771954505	394	G>D		No	ClinGen ExAC TOPMed
TCGA novel	394	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	394	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379212369 CA414671121	394	G>S		No	ClinGen gnomAD
rs773106761 CA10517430	395	K>T		No	ClinGen ExAC gnomAD
rs1373324072 CA414671132	396	R>G		No	ClinGen gnomAD
CA414671137 rs1302434869	396	R>S		No	ClinGen gnomAD
CA414671135 rs1465372454	396	R>T		No	ClinGen TOPMed gnomAD
CA414671139 rs932443999	397	E>K		No	ClinGen TOPMed
rs932443999 CA335789282	397	E>Q		No	ClinGen TOPMed
CA335789283 rs751852754	403	L>Q		No	ClinGen 1000Genomes
rs961746709 CA335789284	404	G>R		No	ClinGen TOPMed gnomAD
CA10517433 rs369705757	413	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	415	V>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372524788 CA335789285	416	R>C		No	ClinGen ESP TOPMed
rs759041751 CA10517434	416	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10517435 rs138257178	417	A>V		No	ClinGen ESP ExAC
CA10517436 rs752205248	419	I>T		No	ClinGen ExAC gnomAD
TCGA novel	423	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762501727 CA10517437	423	D>V		No	ClinGen ExAC gnomAD
CA10517451 rs759360772	428	V>L		No	ClinGen ExAC gnomAD
CA414671373 rs1478061672	430	P>S		No	ClinGen TOPMed
rs1302402229 CA414671378	431	H>D		No	ClinGen gnomAD
CA10517452 rs769378997	431	H>R		No	ClinGen ExAC TOPMed gnomAD
CA10517454 rs762400367	434	R>K		No	ClinGen ExAC gnomAD
TCGA novel	434	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10517455 rs763640625	436	V>G		No	ClinGen ExAC gnomAD
rs1200019083 CA414671434	439	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10517456 rs752116998	439	R>H	Variant assessed as Somatic; 0.0001252 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1200019083 CA414671432	439	R>S		No	ClinGen gnomAD
rs1191757469 CA414671439	440	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1598871 CA414671437 rs1191757469	440	V>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs989453593 CA335789299	444	S>N		No	ClinGen Ensembl
CA414671477 rs1427003368	445	P>L		No	ClinGen TOPMed gnomAD
rs750805688 CA10517459	446	E>K		No	ClinGen ExAC gnomAD
TCGA novel	447	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466168237 CA414671493	448	L>V		No	ClinGen gnomAD
rs4830210 CA335789300	452	R>T		No	ClinGen Ensembl
rs373442691 CA335789301	453	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA414671529 rs1569369624	453	R>L		No	ClinGen Ensembl
CA414671550 rs1603395272	456	L>S		No	ClinGen Ensembl
TCGA novel	458	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436389659	459	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	459	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414671580 rs1280625662	460	Q>R		No	ClinGen TOPMed
CA10517470 rs775020250	463	R>C		No	ClinGen ExAC gnomAD
CA335789312 rs149641570	463	R>L		No	ClinGen ESP TOPMed
rs1412215423 CA414671622	465	K>E		No	ClinGen TOPMed
TCGA novel	467	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	468	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10517471 rs748903943	472	L>V		No	ClinGen ExAC gnomAD
rs768421215 CA10517472	473	S>C		No	ClinGen ExAC gnomAD
CA335789313 rs909699242	478	T>N		No	ClinGen Ensembl
CA10517473 rs180953681	480	A>P		No	ClinGen 1000Genomes ExAC
TCGA novel	480	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10517474 rs761387208	480	A>V		No	ClinGen ExAC gnomAD
CA10517475 rs768180433	481	E>G		No	ClinGen ExAC gnomAD
CA10517477 rs185166986	483	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs773732451 CA10517476	483	R>W		No	ClinGen ExAC TOPMed gnomAD
CA414671744 rs1239208607	484	A>S		No	ClinGen TOPMed
CA414671745 rs1166048745	484	A>V		No	ClinGen gnomAD
rs766704531 CA10517478	485	A>S		No	ClinGen ExAC gnomAD
CA10517479 rs754007117	485	A>V		No	ClinGen ExAC TOPMed gnomAD
rs755258357 CA10517480	486	V>I		No	ClinGen ExAC TOPMed gnomAD
rs752821732 CA10517482	488	A>P		No	ClinGen ExAC gnomAD
TCGA novel	488	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1026063857 CA335789453	497	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs777978548 CA335789454	503	V>M		No	ClinGen Ensembl
CA335789455 rs950592024	505	S>C		No	ClinGen TOPMed
rs759870698 CA10517498	506	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10517499 rs201012543	507	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs143373002 CA10517500	508	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs763043067 CA10517501	509	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10517502 rs182540216	509	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA414671913 rs182540216	509	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs907052403 CA335789456	511	H>R		No	ClinGen TOPMed
rs1188580324 CA414671935	513	D>N		No	ClinGen gnomAD
CA10517504 rs371444281	517	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1437909348 CA414671973	518	G>D		No	ClinGen gnomAD
rs142401871 COSM1660608 CA10517505	523	P>L	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA335789457 rs267606352	523	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	524	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754784113 CA10517507	524	E>V		No	ClinGen ExAC gnomAD
rs367809323 CA335789458	525	Q>P		No	ClinGen ESP TOPMed gnomAD
CA414672029 rs778733968	527	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10517509 rs747749800	527	R>H		No	ClinGen ExAC gnomAD
CA10517508 COSM1637144 rs778733968	527	R>S	bone [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10517510 rs771482508	528	P>Q		No	ClinGen ExAC gnomAD
rs777405213 CA10517512	529	L>F		No	ClinGen ExAC gnomAD
rs947570588 CA335789459	529	L>S		No	ClinGen TOPMed
TCGA novel	530	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414672048 rs1445436243	530	L>H		No	ClinGen TOPMed gnomAD
rs145932994 COSM2726083 CA10517513	531	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	533	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414672062 rs1378988123	533	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	534	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335789460 rs376197707	534	R>L		No	ClinGen ESP ExAC TOPMed
CA10517515 rs376197707	534	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA10517514 rs371342192	534	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs770094078 CA10517516	535	E>K		No	ClinGen ExAC gnomAD
CA414672075 rs1349135359	536	K>Q		No	ClinGen gnomAD
CA335789461 rs3890844	538	A>D		No	ClinGen Ensembl
rs867957999 CA335789462	539	K>I		No	ClinGen Ensembl
CA335789463 rs1043294016	540	T>A		No	ClinGen TOPMed gnomAD
CA414672111 rs1179445749	541	G>D		No	ClinGen TOPMed
CA10517518 COSM3843574 rs763228565	542	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with Q6ZRI8

6 regional properties for Q6ZRI8

Type	Name	Position	InterPro Accession
domain	Rho GTPase-activating protein domain	656 - 844	IPR000198
domain	WW domain	265 - 298	IPR001202-1
domain	WW domain	359 - 391	IPR001202-2
domain	SH3 domain	12 - 74	IPR001452
domain	Pleckstrin homology domain	463 - 577	IPR001849
domain	ARHGAP12, SH3 domain	15 - 74	IPR035491

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

1 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.

1 GO annotations of biological process

Name	Definition
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.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MGGCIPFLKA	ARALCPRIMP	PLLLLSAFIF	LVSVLGGAPG	HNPDRRTKMV	SIHSLSELER
70	80	90	100	110	120
LKLQETAYHE	LVARHFLSEF	KPDRALPIDR	PNTLDKWFLI	LRGQQRAVSH	KTFGISLEEV
130	140	150	160	170	180
LVNEFTRRKH	LELTATMQVE	EATGQAAGRR	RGNVVRRVFG	RIRRFFSRRR	NEPTLPREFT
190	200	210	220	230	240
RRGRRGAVSV	DSLAELEDGA	LLLQTLQLSK	ISFPIGQRLL	GSKRKMSLNP	IAKQIPQVVE
250	260	270	280	290	300
ACCQFIEKHG	LSAVGIFTLE	YSVQRVRQLR	EEFDQGLDVV	LDDNQNVHDV	AALLKEFFRD
310	320	330	340	350	360
MKDSLLPDDL	YMSFLLTATL	KPQDQLSALQ	LLVYLMPPCH	SDTLERLLKA	LHKITENCED
370	380	390	400	410	420
SIGIDGQLVP	GNRMTSTNLA	LVFGSALLKK	GKFGKRESRK	TKLGIDHYVA	SVNVVRAMID
430	440	450	460	470	480
NWDVLFQVPP	HIQRQVAKRV	WKSSPEALDF	IRRRNLRKIQ	SARIKMEEDA	LLSDPVETSA
490	500	510	520	530	540
EARAAVLAQS	KPSDEGSSEE	PAVPSGTARS	HDDEEGAGNP	PIPEQDRPLL	RVPREKEAKT

GVSYFFP