AiPD: Autoinhibited Protein Database

Q9NR81

Gene name	ARHGEF3
Protein name	Rho guanine nucleotide exchange factor 3
Names	Exchange factor found in platelets and leukemic and neuronal tissues, XPLN
Species	Homo sapiens (Human)
KEGG Pathway	hsa:50650
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

21-123 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

21-123 (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 Q9NR81

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NR81-F1	Predicted				AlphaFoldDB

376 variants for Q9NR81

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA353270426 rs1578554607	2	V>G		No	ClinGen Ensembl
CA353270381 rs1212917229	4	K>N		No	ClinGen TOPMed gnomAD
rs779002458 CA2462323	7	P>L		No	ClinGen ExAC TOPMed gnomAD
CA74925506 rs779002458	7	P>R		No	ClinGen ExAC TOPMed gnomAD
rs376793122 CA2462324	7	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755254293 CA2462322	8	F>V		No	ClinGen ExAC gnomAD
CA353270293 rs1379225547	9	Y>C		No	ClinGen TOPMed
CA353270309 rs1344951127	9	Y>H		No	ClinGen gnomAD
rs754077473 CA2462321	11	T>M		No	ClinGen ExAC TOPMed gnomAD
CA353270249 rs1470223365	13	K>*		No	ClinGen TOPMed gnomAD
CA353270250 rs1470223365	13	K>E		No	ClinGen TOPMed gnomAD
CA2462319 COSM1186331 VAR_021935 COSM1186330 rs3732507	13	K>R	lung [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs3732507 CA353270248	13	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2462318 rs750279712	19	L>P		No	ClinGen ExAC gnomAD
rs916528899 CA74925466	21	L>Q		No	ClinGen Ensembl
CA74925461 rs899889736	22	P>S		No	ClinGen TOPMed gnomAD
CA2462316 rs538294080	23	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs751146866 CA2462315	23	P>L		No	ClinGen ExAC gnomAD
rs751146866 CA353270131	23	P>Q		No	ClinGen ExAC gnomAD
CA353270132 rs538294080	23	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs538294080 CA353270135	23	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1202456724 CA353270124	24	A>V		No	ClinGen gnomAD
CA2462314 rs763822947	25	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2462313 rs762635540	25	S>I		No	ClinGen ExAC
CA353270116 rs574725560	26	G>C		No	ClinGen TOPMed gnomAD
CA2462312 rs775285206	26	G>D		No	ClinGen ExAC gnomAD
CA74925443 rs574725560	26	G>R		No	ClinGen TOPMed gnomAD
CA353270113 rs1357602723	27	P>A		No	ClinGen gnomAD
CA2462311 rs771379030	27	P>L		No	ClinGen ExAC TOPMed gnomAD
CA74925436 rs771379030	27	P>R		No	ClinGen ExAC TOPMed gnomAD
CA353270104 rs1578554160	28	A>G		No	ClinGen Ensembl
rs773568173 CA2462309	28	A>S		No	ClinGen ExAC
rs773568173 CA74925411	28	A>T		No	ClinGen ExAC
rs888496331 CA74925400	29	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1242268523 CA353283619	34	P>S		No	ClinGen gnomAD
rs1462558222 CA353283590	38	R>Q		No	ClinGen TOPMed gnomAD
rs745635085 CA2462275	38	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2462274 rs780981167	39	V>A		No	ClinGen ExAC gnomAD
CA74959094 rs151025008	39	V>L		No	ClinGen ESP TOPMed gnomAD
rs1578474640 CA353283577	40	K>N		No	ClinGen Ensembl
rs1200212161 CA353283579	40	K>R		No	ClinGen TOPMed
rs558978343 CA2462273	41	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA74959085 rs558978343	41	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188301392 CA353283568	42	L>P		No	ClinGen TOPMed
CA2462272 rs539002604	44	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1314753114 COSM1424811 COSM1424812 COSM4152526 CA353283558 COSM1424813	44	R>Q	kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1450946796 CA353283554	45	V>L		No	ClinGen gnomAD
CA353283538 rs1269090226	47	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353283542 rs1481230275	47	S>P		No	ClinGen gnomAD
CA353283519 rs1391391085	50	N>K		No	ClinGen gnomAD
rs1404167254 CA353283522	50	N>S		No	ClinGen TOPMed
CA353283518 rs1435107323	51	L>F		No	ClinGen TOPMed
CA2462269 rs752292780	53	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2462267 rs754603106	54	P>S		No	ClinGen ExAC gnomAD
CA353283493 rs1161370912	55	V>L		No	ClinGen TOPMed gnomAD
COSM1650179 rs1161370912 CA353283495 COSM1143354 COSM1143353 COSM584458	55	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs767886537 CA2462265	56	K>R		No	ClinGen ExAC gnomAD
rs762111839 CA2462264	57	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764625854 COSM1424810 COSM1424809 CA2462262 COSM1424808	58	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA353283470 rs1490070619	59	P>L		No	ClinGen gnomAD
CA2462258 rs746058923	59	P>S		No	ClinGen ExAC gnomAD
CA74959014 rs551299003	62	R>C		No	ClinGen TOPMed gnomAD
CA2462257 rs368331403	62	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2462256 rs770710162	66	T>I		No	ClinGen ExAC gnomAD
rs746845043 CA2462255	68	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA353281261 rs1270481779	69	R>C		No	ClinGen gnomAD
CA353281259 rs1209881180	69	R>H		No	ClinGen TOPMed gnomAD
rs1323497808 CA353281246	71	I>T		No	ClinGen gnomAD
CA74945120 rs201828699	72	S>G		No	ClinGen Ensembl
rs1261296565 CA353281228	74	R>C		No	ClinGen gnomAD
CA2462228 rs764132102	74	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA74945118 rs764132102	74	R>L		No	ClinGen ExAC TOPMed gnomAD
CA74945109 rs373241102	75	S>N		No	ClinGen ESP gnomAD
CA74945100 rs202114894	76	E>D		No	ClinGen 1000Genomes
CA353281207 rs1559908181	77	S>N		No	ClinGen Ensembl
rs573414511 CA74945096	77	S>R		No	ClinGen 1000Genomes
rs750092129 CA2462227	78	R>H		No	ClinGen ExAC TOPMed gnomAD
CA353281190 rs200111589	80	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2462226 rs200111589	80	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758791802 CA2462224	81	I>V		No	ClinGen ExAC gnomAD
rs369576520 CA2462222	83	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2462221 rs759626361	83	A>V		No	ClinGen ExAC gnomAD
rs1464963794	85	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2462216 rs771947435	85	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771947435 CA2462217	85	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	87	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2462215 rs761752975	87	W>R		No	ClinGen ExAC TOPMed gnomAD
rs868213252 CA74945030	91	A>V		No	ClinGen Ensembl
COSM1424805 CA2462213 COSM1424806 COSM1424807 rs768543223	92	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748819818 CA2462212	92	A>V		No	ClinGen ExAC
CA74945024 rs942954666	93	P>L		No	ClinGen TOPMed
rs1353976981 CA353281033	93	P>S		No	ClinGen TOPMed
rs1284428514 CA353281018	94	S>*		No	ClinGen TOPMed
CA353281007 rs1372088119	95	S>N		No	ClinGen TOPMed
rs144809134 CA2462210	96	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs144809134 CA353280991	96	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745481474 CA2462209	98	R>W		No	ClinGen ExAC gnomAD
CA2462205 rs147377987	100	D>E		No	ClinGen ESP TOPMed
CA2462207 rs758740358	100	D>H		No	ClinGen ExAC gnomAD
CA2462204 rs753039261	111	C>S		No	ClinGen ExAC gnomAD
rs139520914 CA2462202	112	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754380623 CA2462201	113	N>S		No	ClinGen ExAC gnomAD
rs576332582 CA74944946	114	Q>H		No	ClinGen gnomAD
CA353280711 rs1326325064	115	M>V		No	ClinGen gnomAD
CA353280686 rs1431208858	116	L>F		No	ClinGen gnomAD
rs570838709 CA2462200	118	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183193249 CA74944908	124	Q>K		No	ClinGen 1000Genomes
TCGA novel	124	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2462184 rs755403345	126	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1252699674 CA353280479	130	L>F		No	ClinGen gnomAD
CA2462181 rs543811342	135	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780759365 CA2462182	135	E>G		No	ClinGen ExAC gnomAD
rs750597803 CA2462180	136	D>Y		No	ClinGen ExAC gnomAD
CA353280358 rs1559906199	138	I>T		No	ClinGen Ensembl
rs767839093 CA2462179	145	K>R		No	ClinGen ExAC gnomAD
TCGA novel	147	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230471439 CA353280092	149	H>R		No	ClinGen gnomAD
CA2462165 rs749703450	149	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	150	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2462164 rs780702307	151	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2462163 rs756747104	154	K>N		No	ClinGen ExAC gnomAD
TCGA novel	156	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs184396816 CA74942456	158	M>K		No	ClinGen 1000Genomes gnomAD
CA353280007 rs1366569198	158	M>V		No	ClinGen TOPMed
rs1429608052 CA353279968	161	Q>E		No	ClinGen TOPMed
CA2462160 rs757391138	164	N>S		No	ClinGen ExAC gnomAD
CA2462158 rs764422347	171	D>A		No	ClinGen ExAC gnomAD
TCGA novel	171	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	176	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2462157 rs758093932	177	H>R		No	ClinGen ExAC gnomAD
CA74942264 rs141644502	180	L>F		No	ClinGen ESP
rs1388577345 CA353279606	185	R>*		No	ClinGen gnomAD
rs775943255 CA2462146	185	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA74942260 rs982106793	186	D>Y		No	ClinGen TOPMed gnomAD
rs922118491 CA74942244	187	V>D		No	ClinGen TOPMed
rs770289858 CA2462145	189	K>R		No	ClinGen ExAC gnomAD
rs746339999 CA2462144	190	P>S		No	ClinGen ExAC gnomAD
CA74942219 rs915595115	193	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	200	I>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353279429 rs1185999219	200	I>V		No	ClinGen TOPMed
CA74942154 rs963809371	202	V>M		No	ClinGen TOPMed
TCGA novel	203	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	206	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353278660 rs1410621191	207	C>W		No	ClinGen TOPMed gnomAD
rs1578396331 CA353278614	210	S>F		No	ClinGen Ensembl
CA353278607 rs1321270072	211	Y>C		No	ClinGen gnomAD
rs747042598 CA2462124	211	Y>H		No	ClinGen ExAC gnomAD
CA353278602 rs1406813993	212	D>H		No	ClinGen TOPMed
rs1391268779 CA353278473	220	A>T		No	ClinGen TOPMed gnomAD
rs377224126 CA2462122	221	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559897211 CA353278427	223	A>S		No	ClinGen Ensembl
TCGA novel	225	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353278397 rs1361626014	226	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1342180735 CA353278346	229	K>R		No	ClinGen TOPMed
TCGA novel	230	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	231	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448498487 CA353278320	231	D>H		No	ClinGen TOPMed
CA74937677 COSM1485410 COSM446907 COSM1485409 rs372602142	233	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1164876638 CA353278255	235	Q>*		No	ClinGen gnomAD
rs1376476684 CA353278240	236	D>N		No	ClinGen TOPMed
rs1046039305 CA74937666	239	Q>R		No	ClinGen TOPMed
TCGA novel	240	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2462120 rs542361479	242	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs528700374 CA2462119	245	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA353278103 rs950370717	248	R>C		No	ClinGen TOPMed gnomAD
CA74937652 rs868499904	248	R>H		No	ClinGen gnomAD
CA74937653 rs950370717	248	R>S		No	ClinGen TOPMed gnomAD
rs779842421 CA2462117	250	L>P		No	ClinGen ExAC gnomAD
CA74937634 rs921590627	255	F>L		No	ClinGen Ensembl
rs750336883 CA2462115	257	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2462114 rs767017001	261	S>C		No	ClinGen ExAC
rs1430716980 CA353278009	262	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761432649 CA2462113	262	R>H		No	ClinGen ExAC gnomAD
CA74937584 rs199688238	265	K>E		No	ClinGen 1000Genomes
CA2462112 rs546550013	267	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA353277966 rs1432762152	269	L>P		No	ClinGen gnomAD
CA353277961 rs1159186605	270	L>F		No	ClinGen gnomAD
rs775536031 CA74937552	271	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs777106552 CA2462109	272	E>Q		No	ClinGen ExAC gnomAD
CA353277938 rs766666898	274	L>V		No	ClinGen ExAC TOPMed gnomAD
rs916127493 CA74937514	275	R>K		No	ClinGen TOPMed
TCGA novel	279	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372391134 CA74937503	279	N>S		No	ClinGen Ensembl
rs1438195552 CA353277898	280	D>H		No	ClinGen TOPMed
COSM584461 COSM1143347 COSM1650180 CA353277899 rs1438195552 COSM1143348	280	D>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs866787093 CA74937500	284	Q>H		No	ClinGen Ensembl
CA353277853 rs1204843570	286	H>D		No	ClinGen gnomAD
rs1180164681 CA353277820	290	A>G		No	ClinGen TOPMed
rs1486089054 CA353276227	291	I>V		No	ClinGen gnomAD
CA2462091 rs141741117	292	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282900536 CA353276207	294	I>V		No	ClinGen TOPMed
rs752297176 CA2462090	299	A>T		No	ClinGen ExAC gnomAD
rs1298110097 CA353276159	301	I>V		No	ClinGen gnomAD
CA353276147 rs1376910910	302	N>K		No	ClinGen gnomAD
CA2462087 rs773744721	303	T>S		No	ClinGen ExAC gnomAD
rs571204788 CA74930713	304	K>N		No	ClinGen Ensembl
rs1448126136 CA353276128	305	T>I		No	ClinGen gnomAD
rs768081587 CA2462086	309	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs774357552 CA2462084	311	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2462083 rs766185213	311	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749489851 CA2462082	314	K>*		No	ClinGen ExAC gnomAD
CA74930701 rs755931825	316	R>Q		No	ClinGen TOPMed gnomAD
rs1578371750 CA353276056	316	R>W		No	ClinGen Ensembl
rs781267179 CA2462078	318	L>F		No	ClinGen ExAC gnomAD
CA353276044 rs1484174831	318	L>P		No	ClinGen gnomAD
CA2462077 rs757318311	319	Y>F		No	ClinGen ExAC gnomAD
rs78366993 CA2462076	320	L>F		No	ClinGen ExAC
CA2462075 rs777352025	321	E>G		No	ClinGen ExAC
CA353276020 rs1220569759	322	E>Q		No	ClinGen gnomAD
CA353276011 rs1319783205	323	G>D		No	ClinGen gnomAD
CA353276014 rs1185375522	323	G>S		No	ClinGen TOPMed
CA74930666 rs752632082	324	Q>K		No	ClinGen Ensembl
rs1291929489 CA353276004	324	Q>L		No	ClinGen gnomAD
rs1291929489 CA353276006	324	Q>R		No	ClinGen gnomAD
TCGA novel	325	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239180059 CA353275993	326	D>N		No	ClinGen TOPMed
rs1378175275 CA353275974	329	I>V		No	ClinGen TOPMed
rs1350752704 CA353275964	330	D>G		No	ClinGen gnomAD
CA2462072 rs545739969	330	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA353275966 rs545739969	330	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2462071 rs756498255	331	S>R		No	ClinGen ExAC gnomAD
CA353275948 rs1457725185	332	S>F		No	ClinGen gnomAD
rs1424794687 CA353275947	333	R>G		No	ClinGen TOPMed gnomAD
rs199497986 CA353275944	333	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199497986 CA2462070	333	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA353275938 rs1578371441	334	V>G		No	ClinGen Ensembl
rs1162038759 CA353275942	334	V>L		No	ClinGen TOPMed gnomAD
CA2462067 rs3772219	335	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2462066 rs3772219 VAR_021936	335	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1016683797 CA353275911	338	H>Q		No	ClinGen TOPMed
rs762995356 CA2462065	338	H>Y		No	ClinGen ExAC
CA353275906 rs1411274207	339	G>D		No	ClinGen gnomAD
rs775754025 CA2462064	342	K>R		No	ClinGen ExAC gnomAD
rs1473660712 CA353275856	343	N>S		No	ClinGen gnomAD
CA2462063 rs144974328	344	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs556643219 CA2462062	344	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1214212930 CA353275833	345	R>Q		No	ClinGen TOPMed gnomAD
COSM192514 COSM1183522 COSM1183521 rs776506559 CA2462061	345	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1559887125 CA353275822	346	G>D		No	ClinGen Ensembl
rs374801140 CA2462059	347	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361129840 CA353274348	349	L>R		No	ClinGen gnomAD
CA2462032 rs778326703	351	V>I		No	ClinGen ExAC gnomAD
CA2462031 rs560385475	353	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1429094910 CA353274211	355	Q>*		No	ClinGen gnomAD
rs557621040 CA2462029	355	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353274056 rs1578355640	361	T>P		No	ClinGen Ensembl
CA2462028 rs540207645	362	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2462026 rs575159516	364	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776245706 CA2462025	365	T>ITTI*		No	ClinGen ExAC
rs1327551890 CA353273919	367	N>H		No	ClinGen gnomAD
CA353273896 rs767350600	368	E>*		No	ClinGen ExAC gnomAD
CA74926654 rs1012534881	368	E>G		No	ClinGen TOPMed
rs767350600 CA2462022	368	E>Q		No	ClinGen ExAC gnomAD
rs1394369370 CA353273800	371	C>W		No	ClinGen gnomAD
rs1357526170 CA353273776	373	Q>P		No	ClinGen gnomAD
rs201007278 CA2462019	376	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201007278 CA2462020	376	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2462018 rs143970287	376	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775121834 CA2462016	378	P>A		No	ClinGen ExAC gnomAD
rs371221361 CA2462015	379	I>V		No	ClinGen ESP ExAC TOPMed
CA2462013 rs114527102	381	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353273619 rs1481886154	385	L>M		No	ClinGen gnomAD
CA353273617 rs1481886154	385	L>V		No	ClinGen gnomAD
rs1197941030 CA353273557	388	D>E		No	ClinGen gnomAD
CA353273565 rs1272869618	388	D>V		No	ClinGen TOPMed gnomAD
CA353273523 rs141804924	390	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376665006 CA2462010	390	Q>R		No	ClinGen ESP ExAC gnomAD
CA2462008 rs754036374	391	D>E		No	ClinGen ExAC TOPMed gnomAD
rs756340237 CA2462006	397	G>R		No	ClinGen ExAC gnomAD
rs1380375876 CA353273419	398	G>S		No	ClinGen TOPMed
rs1330576991 CA353273382	401	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1391750855 CA353273369	402	G>A		No	ClinGen gnomAD
rs1391750855 CA353273372	402	G>E		No	ClinGen gnomAD
CA74926516 rs780743193	405	S>G		No	ClinGen TOPMed gnomAD
rs989451365 CA74926508	405	S>I		No	ClinGen Ensembl
rs780743193 CA74926527	405	S>R		No	ClinGen TOPMed gnomAD
CA353273259 rs1240304685	408	E>G		No	ClinGen TOPMed
CA2462003 rs761720999	410	I>V		No	ClinGen ExAC gnomAD
rs199522786 CA2461983	412	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA353272089 rs1578346066	415	R>T		No	ClinGen Ensembl
rs200602538 CA2461981	417	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2461979 rs776114580	421	G>V		No	ClinGen ExAC gnomAD
rs1236237608 CA353271974	423	Q>R		No	ClinGen gnomAD
CA353271965 rs1201596893	424	S>C		No	ClinGen Ensembl
CA353271964 rs1578346002	424	S>N		No	ClinGen Ensembl
CA353271942 rs1578345985	426	T>P		No	ClinGen Ensembl
CA353271932 rs1578345973	427	H>N		No	ClinGen Ensembl
CA353271923 rs1578345961	427	H>P		No	ClinGen Ensembl
rs138677398 CA2461977	428	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353271899 rs1318429869	429	L>Q		No	ClinGen gnomAD
rs769175022 CA2461975	429	L>V		No	ClinGen ExAC gnomAD
rs780757348 CA353271894	430	Q>E		No	ClinGen ExAC gnomAD
CA2461973 rs780757348	430	Q>K		No	ClinGen ExAC gnomAD
rs769965851 CA2461972	431	A>V		No	ClinGen ExAC TOPMed gnomAD
rs45465492 CA2461971	432	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147084142 CA2461970	436	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201010680 CA2461969	436	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	441	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751730811 CA2461968	442	N>K		No	ClinGen ExAC gnomAD
rs1559878053 CA353271579	442	N>T		No	ClinGen Ensembl
rs993418881 CA74923996	444	I>F		No	ClinGen Ensembl
COSM1594019 rs866259310 CA74923982 COSM1594020 COSM1594018 COSM1047575	445	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1022491479 CA74923980	445	R>H		No	ClinGen TOPMed gnomAD
CA2461966 rs758209539	446	Q>R		No	ClinGen ExAC gnomAD
CA2461963 rs758962414	449	E>A		No	ClinGen ExAC TOPMed gnomAD
CA2461964 rs765197211	449	E>Q		No	ClinGen ExAC gnomAD
rs1364022830 CA353271306	452	L>W		No	ClinGen gnomAD
rs1446663716 CA353271288	453	C>F		No	ClinGen gnomAD
rs765818616 CA353271301	453	C>R		No	ClinGen ExAC gnomAD
rs765818616 CA2461960	453	C>S		No	ClinGen ExAC gnomAD
rs1338262355 CA353271249	454	A>V		No	ClinGen gnomAD
rs1559877829 CA353271230	455	A>V		No	ClinGen Ensembl
rs139172951 CA2461957	456	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2461958 rs139172951	456	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1578345550 CA353271154	460	V>G		No	ClinGen Ensembl
CA353271159 rs763452788	460	V>L		No	ClinGen ExAC gnomAD
rs763452788 CA2461956	460	V>M		No	ClinGen ExAC gnomAD
rs776139488 CA2461955	461	L>I		No	ClinGen ExAC gnomAD
rs746378514 CA353271097	464	E>*		No	ClinGen ExAC gnomAD
CA2461953 rs746378514	464	E>K		No	ClinGen ExAC gnomAD
rs1431104662 CA353271088	464	E>V		No	ClinGen TOPMed
CA2461952 rs781263643	466	S>L		No	ClinGen ExAC TOPMed gnomAD
rs376626083 CA2461950	468	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA74923818 rs1007757527	469	N>S		No	ClinGen TOPMed
rs1178016893 CA353270961	473	G>E		No	ClinGen gnomAD
CA2461946 rs778808215	473	G>R		No	ClinGen ExAC gnomAD
CA2461944 rs753751999	475	R>K		No	ClinGen ExAC gnomAD
CA2461943 rs765864806	478	Q>H		No	ClinGen ExAC gnomAD
CA353270893 rs1273608853	478	Q>L		No	ClinGen gnomAD
TCGA novel	480	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294623988 CA353270848	481	T>K		No	ClinGen gnomAD
CA353270843 rs1414978230	482	K>E		No	ClinGen gnomAD
rs943886074 CA74923801	486	M>T		No	ClinGen Ensembl
TCGA novel	486	M>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1578345326 CA353270765	487	D>N		No	ClinGen Ensembl
rs1307748450 CA353270730	489	S>L		No	ClinGen TOPMed gnomAD
rs1349501156 CA353270739	489	S>P		No	ClinGen gnomAD
rs889689320 CA74923799	491	S>R		No	ClinGen TOPMed gnomAD
rs755630995 CA2461942	492	E>K		No	ClinGen ExAC gnomAD
rs929385523 CA74923791	492	E>V		No	ClinGen TOPMed
rs750070592 CA2461941	493	S>T		No	ClinGen ExAC TOPMed gnomAD
rs763399278 CA2461939	494	D>G		No	ClinGen ExAC gnomAD
rs1050145023 CA74923733	495	C>S		No	ClinGen gnomAD
CA2461938 rs775943437	496	S>N		No	ClinGen ExAC gnomAD
CA2461937 rs760044987	496	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2461935 rs777023361	497	M>L		No	ClinGen ExAC TOPMed gnomAD
rs771018864 CA2461934	499	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353270539 rs1219222548	502	V>I		No	ClinGen TOPMed
CA74923662 rs769309116	503	S>G		No	ClinGen Ensembl
CA353270525 rs1274433376	504	L>V		No	ClinGen TOPMed gnomAD
rs138533417 CA2461929	505	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1617939 COSM1617938 rs754753000 COSM1617937 COSM1617940 CA2461928	506	C>Y	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs115250058 CA2461927	508	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2461925 rs747003453	508	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2461926 rs747003453	508	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773709707 CA2461924	509	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2461923 rs767151649	510	E>G		No	ClinGen ExAC gnomAD
rs199747853 CA74923606	511	Q>E		No	ClinGen gnomAD
CA74923600 rs751284919	513	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2461920 rs116784762	514	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777161594 CA2461918	514	S>F		No	ClinGen ExAC TOPMed gnomAD
rs116784762 CA2461919	514	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2461916 rs766860518	516	C>R		No	ClinGen ExAC gnomAD
rs1190415842 CA353270418	516	C>Y		No	ClinGen gnomAD
CA353270399 rs1301777900	517	G>R		No	ClinGen TOPMed
CA2461914 rs115920785	518	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353270363 rs1254801267	518	N>S		No	ClinGen TOPMed gnomAD
CA353270336 rs1464024249	519	S>I		No	ClinGen gnomAD
CA2461913 rs772143802	520	R>T		No	ClinGen ExAC TOPMed gnomAD
CA353270296 rs748321627	521	H>P		No	ClinGen ExAC gnomAD
rs748321627 CA2461912	521	H>R		No	ClinGen ExAC gnomAD
CA2461910 rs139835615	522	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs780031583 CA2461908	523	E>D		No	ClinGen ExAC TOPMed
rs142645767 CA2461907	524	S>G		No	ClinGen ESP ExAC TOPMed
CA2461905 rs747749503	525	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2461904 rs148484521	526	V>I		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9NR81

2 regional properties for Q9NR81

Type	Name	Position	InterPro Accession
domain	Zinc finger, RING-type	358 - 397	IPR001841
conserved_site	Zinc finger, RING-type, conserved site	374 - 383	IPR017907

Functions

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

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

1 GO annotations of molecular function

Name	Definition
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.

3 GO annotations of biological process

Name	Definition
positive regulation of Rho protein signal transduction	Any process that activates or increases the frequency, rate or extent of Rho protein signal transduction.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
Rho protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z628	NET1	Neuroepithelial cell-transforming gene 1 protein	Homo sapiens (Human)	PR

10	20	30	40	50	60
MVAKDYPFYL	TVKRANCSLE	LPPASGPAKD	AEEPSNKRVK	PLSRVTSLAN	LIPPVKATPL
70	80	90	100	110	120
KRFSQTLQRS	ISFRSESRPD	ILAPRPWSRN	AAPSSTKRRD	SKLWSETFDV	CVNQMLTSKE
130	140	150	160	170	180
IKRQEAIFEL	SQGEEDLIED	LKLAKKAYHD	PMLKLSIMTE	QELNQIFGTL	DSLIPLHEEL
190	200	210	220	230	240
LSQLRDVRKP	DGSTEHVGPI	LVGWLPCLSS	YDSYCSNQVA	AKALLDHKKQ	DHRVQDFLQR
250	260	270	280	290	300
CLESPFSRKL	DLWNFLDIPR	SRLVKYPLLL	REILRHTPND	NPDQQHLEEA	INIIQGIVAE
310	320	330	340	350	360
INTKTGESEC	RYYKERLLYL	EEGQKDSLID	SSRVLCCHGE	LKNNRGVKLH	VFLFQEVLVI
370	380	390	400	410	420
TRAVTHNEQL	CYQLYRQPIP	VKDLLLEDLQ	DGEVRLGGSL	RGAFSNNERI	KNFFRVSFKN
430	440	450	460	470	480
GSQSQTHSLQ	ANDTFNKQQW	LNCIRQAKET	VLCAAGQAGV	LDSEGSFLNP	TTGSRELQGE
490	500	510	520
TKLEQMDQSD	SESDCSMDTS	EVSLDCERME	QTDSSCGNSR	HGESNV