AiPD: Autoinhibited Protein Database

Q9NR80

Gene name	ARHGEF4 (KIAA1112)
Protein name	Rho guanine nucleotide exchange factor 4
Names	APC-stimulated guanine nucleotide exchange factor 1, Asef, Asef1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:50649
EC number
Protein Class	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4 (PTHR47544)

Descriptions

The Rac-specific guanine nucleotide exchange factor (GEF) Asef is activated by binding to the tumor suppressor adenoma- tous polyposis coli mutant, which is found in sporadic and familial colorectal tumors. This activated Asef is involved in the migration of colorectal tumor cells. The GEFs for Rho family GTPases contain the Dbl homology (DH) domain and the pleckstrin homology (PH) domain. When Asef is in the resting state, the GEF activity of the DH-PH module is intramolecularly inhibited by its Src homology 3 (SH3) domain. Binding of the armadillo repeats of APC to a core APC-binding (CAB) motif within ASEF positioned adjacent to the SH3 domain relieves autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	284-468 (DH domain)
Relief mechanism	Partner binding
Assay	Structural analysis

AID

194-253 (SH3 domain)

Target domain

284-468 (DH domain)

Relief mechanism

Partner binding (APC binding to CAB motif adjacent to SH3 domain)

Assay

Structural analysis

Accessory elements

No accessory elements

References

Hamann MJ et al. (2007) "Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation element", Molecular and cellular biology, 27, 1380-93

Murayama K et al. (2007) "Crystal structure of the rac activator, Asef, reveals its autoinhibitory mechanism", The Journal of biological chemistry, 282, 4238-4242

Mitin N et al. (2007) "Release of autoinhibition of ASEF by APC leads to CDC42 activation and tumor suppression", Nature structural & molecular biology, 14, 814-23

Autoinhibited structure

Activated structure

5 structures for Q9NR80

Entry ID	Method	Resolution	Chain	Position	Source
2DX1	X-ray	236 A	A	143-611	PDB
2PZ1	X-ray	225 A	A	170-632	PDB
3NMX	X-ray	230 A	D/E/F	170-194	PDB
3NMZ	X-ray	301 A	C/D	170-276	PDB
AF-Q9NR80-F1	Predicted				AlphaFoldDB

560 variants for Q9NR80

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1417627342 CA348636601	2	P>L		No	ClinGen TOPMed
rs150071332 CA1874855	3	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA56228657 rs910776058	4	E>K		No	ClinGen TOPMed gnomAD
rs1302010156 CA348636625	6	P>S		No	ClinGen gnomAD
CA56228658 rs944987135	11	P>A		No	ClinGen gnomAD
CA348636660 rs944987135	11	P>S		No	ClinGen gnomAD
CA1874856 rs771323502	12	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1225024158 CA348636684	14	S>F		No	ClinGen gnomAD
rs1350776962 CA348636690	15	H>Q		No	ClinGen TOPMed
rs1055831425 CA56228659	15	H>R		No	ClinGen TOPMed gnomAD
rs775063530 CA1874857	19	A>V		No	ClinGen ExAC gnomAD
CA56228660 rs892129718	21	H>R		No	ClinGen TOPMed gnomAD
rs761262844 CA56228661	22	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1874862 rs199809047	22	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761262844 CA1874861	22	M>V		No	ClinGen ExAC TOPMed gnomAD
rs773167697 CA1874863	25	A>S		No	ClinGen ExAC TOPMed gnomAD
CA348636760 rs1386653863	25	A>V		No	ClinGen gnomAD
CA348636762 rs1444876657	26	Q>*		No	ClinGen gnomAD
CA1874864 rs762720636	28	P>L		No	ClinGen ExAC gnomAD
rs1160430952 CA348636806	32	T>A		No	ClinGen TOPMed
rs10188052 CA1874866 VAR_057187	33	D>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1237217573 CA348636814	33	D>V		No	ClinGen gnomAD
rs767803461 CA1874869	34	M>K		No	ClinGen ExAC gnomAD
CA1874868 rs767803461	34	M>T		No	ClinGen ExAC gnomAD
rs542503306 CA1874867	34	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA348636836 rs1194615945	37	W>R		No	ClinGen TOPMed
CA1874870 rs756233817	38	A>S		No	ClinGen ExAC gnomAD
rs756233817 CA348636845	38	A>T		No	ClinGen ExAC gnomAD
rs778492515 CA1874871	39	L>V		No	ClinGen ExAC gnomAD
rs1246987609 CA348636856	40	L>F		No	ClinGen gnomAD
rs1246987609 CA348636855	40	L>V		No	ClinGen gnomAD
CA348636881 rs1314701203	44	A>T		No	ClinGen gnomAD
CA1874874 rs375855121	45	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218087886 CA348636889	45	E>G		No	ClinGen gnomAD
CA56228664 rs375855121	45	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1448141744 CA348636900	47	V>L		No	ClinGen TOPMed
rs1448141744 CA348636899	47	V>M		No	ClinGen TOPMed
CA1874875 rs373599530	48	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs527734596 CA1874876	48	R>H		No	ClinGen ExAC TOPMed gnomAD
CA348636912 rs1245357425	49	G>A		No	ClinGen gnomAD
rs200806481 CA56228665	49	G>R		No	ClinGen 1000Genomes gnomAD
rs1445686249 CA348636915	50	E>Q		No	ClinGen gnomAD
rs776243134 CA1874877	51	A>S		No	ClinGen ExAC TOPMed gnomAD
CA348636952 rs1383049756	55	P>L		No	ClinGen gnomAD
CA348636951 rs1383049756	55	P>R		No	ClinGen gnomAD
rs549714029 CA56228667	56	R>K		No	ClinGen 1000Genomes
rs747693778 CA1874878	57	G>D		No	ClinGen ExAC TOPMed gnomAD
CA348636980 rs1574252237	60	H>P		No	ClinGen Ensembl
rs1451553311 CA348636983	60	H>Q		No	ClinGen TOPMed gnomAD
rs367660031 CA1874880	61	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1874882 rs762957799	61	R>H		No	ClinGen ExAC TOPMed gnomAD
rs367660031 CA1874881	61	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766190445 CA1874883	62	S>L		No	ClinGen ExAC gnomAD
CA348636998 rs1360082869	63	P>L		No	ClinGen TOPMed
CA1874886 rs141778984	64	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1393648734 CA348637006	65	S>G		No	ClinGen TOPMed
CA348637020 rs1461340182	67	D>N		No	ClinGen gnomAD
CA1874887 rs752965067	68	D>N		No	ClinGen ExAC gnomAD
CA1874889 rs764282836	70	W>*		No	ClinGen ExAC gnomAD
rs756321975 CA1874888	70	W>R		No	ClinGen ExAC gnomAD
CA1874892 rs757812645	72	E>G		No	ClinGen ExAC gnomAD
CA1874890 rs753795389	72	E>K		No	ClinGen ExAC TOPMed
rs779238424 CA1874893	73	K>N		No	ClinGen ExAC TOPMed gnomAD
COSM167093 CA348637080 rs758730178	76	R>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA348637079 rs758730178	76	R>K		No	ClinGen ExAC TOPMed gnomAD
CA348637081 rs1481420579	76	R>S		No	ClinGen gnomAD
rs758730178 CA1874895	76	R>T		No	ClinGen ExAC TOPMed gnomAD
rs780885839 CA1874896	83	A>S		No	ClinGen ExAC gnomAD
rs143834469 CA1874897	83	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA56228671 rs1027672200	84	H>N		No	ClinGen TOPMed gnomAD
CA348637134 rs1027672200	84	H>Y		No	ClinGen TOPMed gnomAD
CA1874899 rs61750360	85	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1874902 rs77246402	86	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA56228672 rs966651959	88	R>G		No	ClinGen Ensembl
CA1874903 rs759472736	90	H>P		No	ClinGen ExAC gnomAD
CA348637178 rs190450788	91	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190450788 CA56228673	91	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348637180 rs1285709502	91	I>T		No	ClinGen TOPMed gnomAD
CA1874904 rs190450788	91	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348637187 rs1223225133	92	G>E		No	ClinGen gnomAD
rs775367130 CA1874905	92	G>W		No	ClinGen ExAC TOPMed gnomAD
CA348637190 rs1309704974	93	A>E		No	ClinGen gnomAD
rs976355206 CA56228674	93	A>T		No	ClinGen gnomAD
rs1232004057 CA348637196	94	V>A		No	ClinGen gnomAD
CA1874906 rs760984082	94	V>M		No	ClinGen ExAC gnomAD
rs1416838432 CA348637202	95	H>P		No	ClinGen TOPMed
CA1874907 rs764181668	96	K>E		No	ClinGen ExAC gnomAD
rs140757835 CA1874908	100	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1447896513 CA348509979	101	C>Y		No	ClinGen TOPMed gnomAD
rs1207807330 CA348509992	102	W>C		No	ClinGen TOPMed
rs1165782822 CA348509986	102	W>G		No	ClinGen gnomAD
COSM3390934 CA1874927 rs200479089	105	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1322112564 CA348510020	107	I>L		No	ClinGen TOPMed gnomAD
CA348510021 rs1322112564	107	I>V		No	ClinGen TOPMed gnomAD
CA348510027 rs1574278730	108	T>P		No	ClinGen Ensembl
CA348510034 rs765215777	109	S>A		No	ClinGen ExAC TOPMed
CA1874929 rs765215777	109	S>P		No	ClinGen ExAC TOPMed
rs756653263 CA55520724	110	P>R		No	ClinGen Ensembl
CA1874931 rs150332346	111	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs766828139 CA1874932	111	E>V		No	ClinGen ExAC TOPMed gnomAD
CA1874933 rs751972993	112	S>C		No	ClinGen ExAC gnomAD
rs1389465298 CA348510049	112	S>T		No	ClinGen TOPMed
CA1874934 rs755271265	114	N>S		No	ClinGen ExAC gnomAD
CA55520758 rs879123632	117	R>G		No	ClinGen Ensembl
CA1874936 rs777551060	118	R>*		No	ClinGen ExAC TOPMed gnomAD
rs777551060 CA1874935	118	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756877655 CA1874937	118	R>S		No	ClinGen ExAC TOPMed gnomAD
rs778570526 CA1874938	119	S>N		No	ClinGen ExAC gnomAD
CA348510093 rs778570526	119	S>T		No	ClinGen ExAC gnomAD
CA1874939 rs745331874	120	H>N		No	ClinGen ExAC TOPMed gnomAD
CA1874940 rs745331874	120	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA348510107 rs1396744465	121	P>R		No	ClinGen TOPMed
rs1558754675 CA348510117	123	S>P		No	ClinGen Ensembl
CA348510130 rs1462534558	125	S>G		No	ClinGen gnomAD
rs746838782 CA1874942	128	T>A		No	ClinGen ExAC gnomAD
COSM441125 rs201813341 CA1874943	128	T>M	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs149091381 CA1874945 COSM1183534	129	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
rs769988392 CA1874946	130	L>V		No	ClinGen ExAC gnomAD
CA1874948 rs763002163	131	N>K		No	ClinGen ExAC gnomAD
CA348510183 rs267598877	133	M>I		No	ClinGen gnomAD
CA55520839 rs267598877	133	M>I		No	ClinGen gnomAD
CA348510179 rs1412983958	133	M>L		No	ClinGen TOPMed
rs1184739186 CA348510181	133	M>T		No	ClinGen TOPMed
rs1454960817 CA348510186	134	G>R		No	ClinGen gnomAD
CA1874949 rs138935537 RCV000965612	135	W>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1005352322 CA55520843	135	W>R		No	ClinGen TOPMed
CA1874950 rs372780452	136	P>L		No	ClinGen ExAC TOPMed gnomAD
CA348510200 rs1381622735	136	P>S		No	ClinGen gnomAD
CA348510218 rs760006336	138	H>Q		No	ClinGen ExAC gnomAD
rs1280796278 CA348510215	138	H>R		No	ClinGen gnomAD
CA348510222 rs1223136947	139	T>K		No	ClinGen TOPMed gnomAD
rs369800671 CA55520858	140	P>T		No	ClinGen ESP TOPMed gnomAD
CA1874952 rs767788213	141	G>D		No	ClinGen ExAC
rs146970275 CA1874953	143	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1044372950 CA55538823	144	M>V		No	ClinGen TOPMed
rs369145809 CA1875004	145	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA55538840 rs374216967	147	G>R		No	ClinGen Ensembl
CA348518076 rs1481306860	148	A>P		No	ClinGen gnomAD
CA1875005 rs745973176	148	A>V		No	ClinGen ExAC gnomAD
CA348518149 rs1352698395	151	T>A		No	ClinGen TOPMed
rs780483971 CA1875007	151	T>I		No	ClinGen ExAC gnomAD
CA1875008 rs549092988	152	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1413749682 CA348518185	153	V>I		No	ClinGen gnomAD
rs777163056 CA1875010 COSM1006529	155	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1875013 rs774052049	157	E>D		No	ClinGen ExAC gnomAD
COSM231797 CA1875012 rs770753604	157	E>K	endometrium skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1041573239 CA55538888	159	G>E		No	ClinGen TOPMed gnomAD
CA1875015 rs201643947	161	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377111735 CA1875016	162	E>A		No	ClinGen ESP ExAC gnomAD
CA1875017 rs760637581	163	D>Y		No	ClinGen ExAC gnomAD
CA1875018 rs763971150	165	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA348518438 rs1204531784	166	D>N		No	ClinGen gnomAD
CA348518459 rs1573652966	167	D>A		No	ClinGen Ensembl
CA55538949 rs1034030790	168	L>V		No	ClinGen TOPMed
rs898672633 CA55538960	171	S>F		No	ClinGen TOPMed
CA348518506 rs1273279964	171	S>P		No	ClinGen gnomAD
CA1875022 rs139335654	177	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs372282756 CA1875024	178	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1875023 rs758491276	178	P>S		No	ClinGen ExAC gnomAD
rs200180609 CA1875025	180	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA55538993 rs200180609	180	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781758429 CA1875027	181	G>V		No	ClinGen ExAC gnomAD
rs1266656865 CA348518632	182	G>E		No	ClinGen TOPMed
rs908035414 CA55539030	183	E>K		No	ClinGen TOPMed gnomAD
CA348518675 rs1305451184	184	Q>H		No	ClinGen gnomAD
CA348518700 rs556727675	187	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556727675 CA1875028	187	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875029 rs770184813	188	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1875052 rs746590401	190	L>V		No	ClinGen ExAC gnomAD
CA55550203 rs569466108	191	I>V		No	ClinGen 1000Genomes gnomAD
CA348520309 rs1472538026	193	D>N		No	ClinGen gnomAD
CA348520362 rs1353492711	196	V>E		No	ClinGen TOPMed gnomAD
CA1875056 rs765044277	199	A>T		No	ClinGen ExAC gnomAD
rs977805181 CA55550256	203	W>*		No	ClinGen TOPMed gnomAD
rs1369406145 CA348520488	203	W>C		No	ClinGen TOPMed
CA1875058 rs762630538	205	H>R		No	ClinGen ExAC gnomAD
CA1875059 rs766745776	206	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1413644994 CA348520550	207	T>N		No	ClinGen TOPMed
CA1875060 rs751824924	208	M>T		No	ClinGen ExAC gnomAD
rs752789318 CA1875063	210	D>A		No	ClinGen ExAC gnomAD
rs145451788 CA1875062	210	D>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs778121651 CA1875065	211	Q>H		No	ClinGen ExAC
rs201879918 CA55550306	211	Q>K		No	ClinGen Ensembl
rs1279655003 CA348520679	215	F>L		No	ClinGen gnomAD
rs757558775 CA1875067	218	G>R		No	ClinGen ExAC gnomAD
CA1875069 rs746676393 COSM1006531	220	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1875070 rs768230713	221	I>V		No	ClinGen ExAC gnomAD
rs747559584 CA348520771	222	E>*		No	ClinGen ExAC TOPMed gnomAD
rs747559584 CA1875072	222	E>K		No	ClinGen ExAC TOPMed gnomAD
rs182262740 CA55550370	224	M>I		No	ClinGen 1000Genomes
rs766399370 CA348520798	224	M>R		No	ClinGen Ensembl
rs766399370 CA55550367	224	M>T		No	ClinGen Ensembl
CA348520837 rs1401089276	228	N>S		No	ClinGen TOPMed gnomAD
CA348520859 rs114893794	230	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348520869 rs1307431869	231	W>C		No	ClinGen TOPMed
CA55550420 rs1054186486	231	W>R		No	ClinGen TOPMed
rs141736747 CA55550427	233	W>G		No	ClinGen Ensembl
rs1391008412 CA348520890	234	G>D		No	ClinGen TOPMed
rs369276828 CA55550434	235	R>Q		No	ClinGen ESP TOPMed gnomAD
CA348520894 rs1391965930	235	R>W		No	ClinGen TOPMed
rs1573695370 CA348520902	236	V>G		No	ClinGen Ensembl
rs376702532 CA1875077	237	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1875079 rs759872047 COSM441126	238	D>N	lung breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA348520926 rs1344594664	240	E>D		No	ClinGen gnomAD
CA55550519 rs866522352	240	E>K		No	ClinGen TOPMed gnomAD
CA348520944 rs1198734336	243	F>L		No	ClinGen gnomAD
CA348520945 rs1198734336	243	F>V		No	ClinGen gnomAD
rs752871941 CA1875081	245	A>T		No	ClinGen ExAC gnomAD
rs760641057 CA1875082	246	S>N		No	ClinGen ExAC TOPMed gnomAD
rs760641057 CA55550579	246	S>T		No	ClinGen ExAC TOPMed gnomAD
rs369020916 CA1875084	248	V>I		No	ClinGen ESP ExAC gnomAD
rs1268968363 CA348520981	249	R>G		No	ClinGen TOPMed
rs1016828829 CA55550614	249	R>Q		No	ClinGen TOPMed
rs1268968363 CA348520982	249	R>W		No	ClinGen TOPMed
rs1322761758 CA348521032	254	Q>L		No	ClinGen gnomAD
rs551214782 CA1875107	255	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs959660170 CA55551586	255	D>Y		No	ClinGen TOPMed
CA348521041 rs1434389537	256	E>K		No	ClinGen gnomAD
rs534167453 CA1875109	257	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs534167453 CA1875108	257	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs962656224 CA55551629	258	A>V		No	ClinGen TOPMed
CA1875110 rs369873438	259	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150958124 CA55551649	260	D>E		No	ClinGen ESP TOPMed gnomAD
CA348521079 rs1265411319	261	D>E		No	ClinGen TOPMed gnomAD
rs1396070906 CA348521073	261	D>H		No	ClinGen TOPMed
rs748787186 CA1875111	262	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1268309006 CA348521087	263	P>S		No	ClinGen gnomAD
rs745725712 CA1875114	266	G>A		No	ClinGen ExAC gnomAD
rs1186351986 CA348521102	266	G>R		No	ClinGen gnomAD
rs771980255 CA1875117	267	N>K		No	ClinGen ExAC gnomAD
CA348521120 rs1458572994	268	S>R		No	ClinGen TOPMed gnomAD
rs747198188 CA1875118	268	S>T		No	ClinGen ExAC gnomAD
rs201247468 CA1875121	269	G>A		No	ClinGen ExAC TOPMed gnomAD
rs201247468 COSM1527992 CA1875120	269	G>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs374091599 CA1875119	269	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766664929 CA348521127	270	A>E		No	ClinGen ExAC gnomAD
rs766664929 CA1875126	270	A>V		No	ClinGen ExAC gnomAD
CA1875129 rs763784400	271	E>G		No	ClinGen ExAC gnomAD
rs549648176 CA1875128	271	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1875131 rs756822912	272	D>A		No	ClinGen ExAC TOPMed
rs779052727 CA348521141	272	D>E		No	ClinGen ExAC TOPMed
CA348521143 rs1377108518	273	G>R		No	ClinGen TOPMed
CA348521142 rs1377108518	273	G>S		No	ClinGen TOPMed
CA1875133 rs78947410	273	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1289367834 CA348521148	274	G>E		No	ClinGen gnomAD
rs758346864 CA348521147	274	G>R		No	ClinGen ExAC gnomAD
rs758346864 CA1875135	274	G>R		No	ClinGen ExAC gnomAD
rs758346864 CA1875134	274	G>W		No	ClinGen ExAC gnomAD
CA348521152 rs1206410686	275	A>T		No	ClinGen gnomAD
CA1875137 rs768808876	275	A>V		No	ClinGen ExAC TOPMed gnomAD
rs748290858 CA1875140	276	E>G		No	ClinGen ExAC gnomAD
rs773215317 CA1875142	277	A>G		No	ClinGen ExAC TOPMed gnomAD
CA348521167 rs773215317	277	A>V		No	ClinGen ExAC TOPMed gnomAD
rs202218673 CA1875143	278	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs771423407 CA1875144	279	S>N		No	ClinGen ExAC TOPMed gnomAD
CA55551908 rs556160624	280	S>G		No	ClinGen 1000Genomes gnomAD
CA348521182 rs556160624	280	S>R		No	ClinGen 1000Genomes gnomAD
rs1361142377 CA348521185	280	S>T		No	ClinGen gnomAD
CA348521197 rs1302344203	282	D>N		No	ClinGen TOPMed gnomAD
rs1302344203 CA348521199	282	D>Y		No	ClinGen TOPMed gnomAD
rs145927549 COSM328106 CA1875146	283	Q>R	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA55551917 rs374920505	285	R>Q		No	ClinGen ESP TOPMed gnomAD
CA1875149 rs761501325	286	T>S		No	ClinGen ExAC gnomAD
CA1875148 rs369129650	286	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA348521230 rs1244517975	287	N>D		No	ClinGen TOPMed
rs1231801266 CA348521233	287	N>S		No	ClinGen gnomAD
CA348521240 rs1350981818	288	V>D		No	ClinGen TOPMed
CA348521247 rs1483779764	289	I>T		No	ClinGen gnomAD
rs1231457337 CA348521254	290	N>S		No	ClinGen TOPMed gnomAD
rs780017675 CA1875153	291	E>D		No	ClinGen ExAC gnomAD
rs751350156 CA1875154	292	I>M		No	ClinGen ExAC TOPMed gnomAD
CA55551958 rs577646889	292	I>S		No	ClinGen 1000Genomes
CA348521272 rs1334913907	293	L>F		No	ClinGen TOPMed
rs1192722960 CA348521278	294	S>C		No	ClinGen gnomAD
rs1192722960 CA348521277	294	S>G		No	ClinGen gnomAD
CA348521300 rs1433980079	297	R>Q		No	ClinGen gnomAD
CA1875156 rs754793227	299	Y>H		No	ClinGen ExAC gnomAD
rs781447334 CA1875157	300	I>V		No	ClinGen ExAC gnomAD
rs748380755 CA1875158	301	K>Q		No	ClinGen ExAC gnomAD
rs1309120873 CA348521337	302	H>Q		No	ClinGen gnomAD
rs777856256 CA1875160	305	D>N		No	ClinGen ExAC gnomAD
rs1435113025 CA348521395	309	G>D		No	ClinGen gnomAD
CA348521406 rs749396177	311	V>I		No	ClinGen ExAC gnomAD
rs749396177 CA1875186	311	V>L		No	ClinGen ExAC gnomAD
CA348521413 rs1012668307	312	R>P		No	ClinGen TOPMed gnomAD
CA55552095 rs1012668307	312	R>Q		No	ClinGen TOPMed gnomAD
rs1004409437 CA55552090	312	R>W		No	ClinGen Ensembl
rs757350348 CA1875187	315	R>H		No	ClinGen ExAC gnomAD
rs757169701 CA55552100	315	R>S		No	ClinGen TOPMed
rs1320843791 CA348521440	316	K>N		No	ClinGen TOPMed gnomAD
CA348521445 rs1211608830	317	R>H		No	ClinGen gnomAD
rs1466426267 CA348521450	318	A>S		No	ClinGen gnomAD
rs1466426267 CA348521448	318	A>T		No	ClinGen gnomAD
rs746393820 CA1875189	319	D>E		No	ClinGen ExAC gnomAD
CA1875191 rs776016936	320	M>L		No	ClinGen ExAC gnomAD
rs117266463 CA1875192	322	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781105005 CA1875194	323	E>K		No	ClinGen ExAC gnomAD
CA348521498 rs1391378116	324	E>D		No	ClinGen gnomAD
rs1163234445 CA348521491 COSM3425192 COSM3425190	324	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1875196 rs765926582	325	Q>*		No	ClinGen ExAC gnomAD
rs773666383 CA1875197	327	R>C		No	ClinGen ExAC gnomAD
rs554015620 CA1875199	327	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554015620 CA1875198	327	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752529466 CA1875200	328	T>I		No	ClinGen ExAC gnomAD
rs764357966 CA1875202	333	I>L		No	ClinGen ExAC gnomAD
rs956807382 CA55552175	334	E>K		No	ClinGen gnomAD
rs956807382 CA348521554	334	E>Q		No	ClinGen gnomAD
CA1875205 rs779084802	338	R>C		No	ClinGen ExAC TOPMed gnomAD
CA348521586 rs779084802	338	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1875206 rs745888592	339	C>G		No	ClinGen ExAC gnomAD
rs915397587 CA55552218	339	C>Y		No	ClinGen gnomAD
CA55552248 rs375487974	341	K>E		No	ClinGen ESP TOPMed
rs374174739 CA348521606	341	K>R		No	ClinGen ESP TOPMed gnomAD
CA55552250 rs374174739	341	K>T		No	ClinGen ESP TOPMed gnomAD
CA1875207 rs759020167	344	V>L		No	ClinGen ExAC gnomAD
CA348521624 rs759020167	344	V>M		No	ClinGen ExAC gnomAD
CA348521655 rs1157902821	348	E>D		No	ClinGen gnomAD
rs769124274 CA55552269	349	Q>L		No	ClinGen ExAC gnomAD
CA1875210 rs769124274	349	Q>R		No	ClinGen ExAC gnomAD
rs776802297 CA1875211	350	R>T		No	ClinGen ExAC gnomAD
rs926845320 CA55552287	352	N>K		No	ClinGen Ensembl
CA1875215 rs150910655	354	E>D		No	ClinGen ESP ExAC TOPMed
rs773963101 CA1875214	354	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1875216 rs767510825	355	R>C		No	ClinGen ExAC gnomAD
CA55552300 rs931711554	355	R>L		No	ClinGen TOPMed gnomAD
rs1209320392 CA348521810	366	L>M		No	ClinGen gnomAD
CA1875246 rs763205770	369	Q>E		No	ClinGen ExAC gnomAD
rs766571910 CA1875247	370	A>T		No	ClinGen ExAC TOPMed gnomAD
CA348522151 rs1366094326	373	Q>H		No	ClinGen gnomAD
CA348522150 rs1435794694	373	Q>L		No	ClinGen TOPMed
rs1210823891 CA348522228	380	N>S		No	ClinGen gnomAD
rs149880141 CA55553259	384	N>S		No	ClinGen ESP
rs998531092 CA348522290	385	A>P		No	ClinGen TOPMed
COSM3708892 COSM1613392 rs998531092 CA55553271	385	A>T	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA348522325 rs1190177066	388	E>Q		No	ClinGen gnomAD
rs1190892142 CA348522358	390	S>F		No	ClinGen gnomAD
rs1423630940 CA348522365	391	R>Q		No	ClinGen TOPMed
CA1875255 COSM1183536 rs200586233	391	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA348522374 rs1163949033	392	L>F		No	ClinGen gnomAD
CA1875257 rs746502583	393	T>N		No	ClinGen ExAC gnomAD
rs779564478 CA1875256	393	T>S		No	ClinGen ExAC TOPMed gnomAD
CA348522410 rs1322860551	395	L>F		No	ClinGen gnomAD
CA55553297 rs368378668	396	S>G		No	ClinGen ESP TOPMed
rs879109692 CA55553305	396	S>T		No	ClinGen Ensembl
CA348522438 rs372308937	397	K>N		No	ClinGen ESP ExAC gnomAD
CA55553318 rs556538590	399	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875260 rs556538590	399	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348522498 rs1342787115	402	F>L		No	ClinGen gnomAD
CA1875261 rs769485434	403	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA348522522 rs1293049341	404	A>G		No	ClinGen gnomAD
CA55553330 rs1023900070	406	R>Q		No	ClinGen TOPMed
CA348522536 rs1333214963	406	R>W		No	ClinGen gnomAD
rs1485233929 CA348522564	408	L>R		No	ClinGen gnomAD
CA348522572 rs1573705672	409	Q>P		No	ClinGen Ensembl
rs544680550 CA1875264	410	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1415365544 CA348522618	412	I>T		No	ClinGen gnomAD
rs759687144 CA1875266	412	I>V		No	ClinGen ExAC gnomAD
rs1473472263 CA348522644	414	I>S		No	ClinGen gnomAD
rs1364621199 CA348522688	418	G>S		No	ClinGen gnomAD
CA348522741 rs1453064674	423	P>A		No	ClinGen gnomAD
rs768129574 CA1875267	423	P>L		No	ClinGen ExAC gnomAD
rs756578048 CA1875269	425	Q>R		No	ClinGen ExAC gnomAD
CA348522780 rs1300173173	426	K>M		No	ClinGen TOPMed
CA348522888 rs1230651357	435	A>T		No	ClinGen gnomAD
CA1875273 rs147815683	436	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1875275 rs754430232	441	T>M		No	ClinGen ExAC gnomAD
CA348522987 rs1210031270	442	H>Q		No	ClinGen TOPMed gnomAD
CA348522996 rs1255357688	443	P>S		No	ClinGen TOPMed gnomAD
rs1255357688 CA348522994	443	P>T		No	ClinGen TOPMed gnomAD
CA1875297 rs777821079	449	K>R		No	ClinGen ExAC gnomAD
CA1875298 rs749153891	450	D>E		No	ClinGen ExAC gnomAD
rs1409628106 CA348523154	450	D>N		No	ClinGen gnomAD
CA348523191 rs770865778	453	A>D		No	ClinGen ExAC TOPMed gnomAD
rs770865778 CA1875299	453	A>V		No	ClinGen ExAC TOPMed gnomAD
CA348523198 rs1439795876	454	A>S		No	ClinGen TOPMed gnomAD
rs746108989 CA1875301	455	L>S		No	ClinGen ExAC gnomAD
CA1875303 rs772292200	459	K>N		No	ClinGen ExAC gnomAD
CA348523287 rs201353514	460	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875305 rs760779858	461	V>M		No	ClinGen ExAC TOPMed gnomAD
rs923356851 CA55553822	463	Q>R		No	ClinGen TOPMed
rs1213361895 CA348523358	467	E>K		No	ClinGen gnomAD
CA1875309 rs765585986	468	R>Q		No	ClinGen ExAC gnomAD
CA348523398 rs1178388383	470	R>Q		No	ClinGen TOPMed
rs1055055496 CA55553859	470	R>W		No	ClinGen Ensembl
rs567459207 CA1875311	475	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA1875312 rs567459207	475	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1875313 rs752186964	477	K>E		No	ClinGen ExAC gnomAD
CA1875314 rs755674342	477	K>R		No	ClinGen ExAC gnomAD
rs761838931 CA55553918	478	I>T		No	ClinGen TOPMed
CA348523525 rs753830999	480	Q>H		No	ClinGen ExAC gnomAD
rs1390153883 CA348523531	481	W>R		No	ClinGen gnomAD
rs1430856746 CA348523549	482	Q>*		No	ClinGen gnomAD
CA1875317 rs757221000	483	S>N		No	ClinGen ExAC gnomAD
CA348523586 rs1558898591	485	I>T		No	ClinGen Ensembl
CA348523604 rs1016159190	486	E>D		No	ClinGen TOPMed
rs1230030237 CA348523610	487	D>Y		No	ClinGen gnomAD
rs201245808 CA1875336	490	G>E		No	ClinGen Ensembl
rs1254505826 CA348523973	491	E>D		No	ClinGen gnomAD
CA348524008 rs1157681666	494	L>S		No	ClinGen gnomAD
CA1875338 rs757316470	497	S>N		No	ClinGen ExAC gnomAD
rs1573712454 CA348524072	499	E>D		No	ClinGen Ensembl
rs1573712465 CA348524104	502	Y>S		No	ClinGen Ensembl
rs778882777 CA1875339	503	S>L		No	ClinGen ExAC TOPMed gnomAD
rs758202889 CA1875341	504	G>R		No	ClinGen ExAC gnomAD
rs1309617488 CA348524164	507	T>N		No	ClinGen gnomAD
rs1336179328 CA348524171	508	R>*		No	ClinGen gnomAD
CA348524169 rs1336179328	508	R>G		No	ClinGen gnomAD
rs575658367 CA1875343	508	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA1875345 rs781268504	510	T>A		No	ClinGen ExAC gnomAD
COSM339427 CA55555463 rs946180959	510	T>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA348524208 rs1281591949	511	Q>L		No	ClinGen gnomAD
rs770325091 CA1875347	512	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1875346 rs143580339	512	P>S		No	ClinGen ESP ExAC TOPMed
rs773762975 CA1875348	514	A>P		No	ClinGen ExAC TOPMed gnomAD
rs773762975 CA348524245	514	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1875349 rs763283496	514	A>V		No	ClinGen ExAC gnomAD
rs1438792126 CA348524255	515	K>E		No	ClinGen gnomAD
CA1875350 rs771333479	516	S>R		No	ClinGen ExAC gnomAD
rs1301518486 CA348524283	517	Q>*		No	ClinGen TOPMed
rs536731766 CA1875351	519	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875352 rs140905245	520	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1875353 rs140905245	520	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348524331 rs1326301529	523	L>F		No	ClinGen TOPMed
rs1432771336 CA348524339	524	F>S		No	ClinGen gnomAD
rs761405989 CA1875356	528	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1875355 rs761405989	528	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1875357 rs750383856	530	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA348524404 rs1328374174	533	K>T		No	ClinGen gnomAD
CA348524423 rs1573715297	534	D>A		No	ClinGen Ensembl
COSM140425 CA55556254 rs746160752	534	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1573715335 CA348524437	536	L>P		No	ClinGen Ensembl
CA348524434 rs1327535874	536	L>V		No	ClinGen gnomAD
rs762967924 CA1875375	537	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1875376 rs376653204	537	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA348524445 rs1233481709	538	R>C		No	ClinGen TOPMed gnomAD
CA1875377 rs542532426	538	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875379 rs767784717	539	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1190796034 CA348524458	540	V>A		No	ClinGen TOPMed gnomAD
rs752929676 CA348524456	540	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1875380 COSM1006537 rs752929676	540	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769850380 CA1875382	544	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1456400597 CA348524492	545	G>S		No	ClinGen gnomAD
rs779560862 CA1875385 COSM1006538	546	R>Q	eye endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs757826614 CA1875384	546	R>W		No	ClinGen ExAC gnomAD
CA348524502 rs1558903331	547	L>P		No	ClinGen Ensembl
CA348524507 rs1468323773	548	D>V		No	ClinGen TOPMed
CA1875387 rs746297167	549	M>L		No	ClinGen ExAC TOPMed gnomAD
CA348524512 rs746297167	549	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1875386 rs746297167	549	M>V		No	ClinGen ExAC TOPMed gnomAD
rs775643996 CA1875389	551	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775643996 CA1875390	551	G>S		No	ClinGen ExAC TOPMed gnomAD
rs763077070 CA1875391	551	G>V		No	ClinGen ExAC TOPMed gnomAD
CA348524534 rs1415857555	552	L>R		No	ClinGen gnomAD
rs762337093 CA1875392	553	E>K		No	ClinGen ExAC gnomAD
rs759410848 CA1875395	557	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA348524585 rs1186968112	560	G>A		No	ClinGen gnomAD
rs752441296 CA1875397	560	G>R		No	ClinGen ExAC TOPMed gnomAD
CA348524617 rs1422270521	564	D>E		No	ClinGen gnomAD
rs1157321510 CA348524657	570	K>R		No	ClinGen TOPMed gnomAD
CA348524669 rs1435957740	572	A>T		No	ClinGen TOPMed gnomAD
CA55556432 rs768833708	574	R>Q		No	ClinGen TOPMed gnomAD
rs754018988 CA1875400	574	R>W		No	ClinGen ExAC TOPMed gnomAD
CA348524696 rs1334615401	576	H>L		No	ClinGen gnomAD
CA348524695 rs1334615401	576	H>R		No	ClinGen gnomAD
rs1307295936 CA348524691	576	H>Y		No	ClinGen gnomAD
rs866540626 CA55556463	577	R>C		No	ClinGen TOPMed gnomAD
rs201864410 CA1875402	577	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373013920 CA1875403	579	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348524719 rs1481516298	580	T>I		No	ClinGen gnomAD
CA348524724 rs1179118387	581	G>V		No	ClinGen gnomAD
rs1251530964 CA348524728	582	D>H		No	ClinGen gnomAD
CA1875406 rs747310619	588	T>S		No	ClinGen ExAC gnomAD
rs777285188 CA1875408	591	P>L		No	ClinGen ExAC gnomAD
rs370443864 CA55556523	592	E>K		No	ClinGen TOPMed gnomAD
rs370443864 CA348524793	592	E>Q		No	ClinGen TOPMed gnomAD
rs377416304 CA1875411	595	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376557347 CA55556526	596	R>C		No	ClinGen TOPMed gnomAD
rs759492761 CA1875412	596	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1308978075 CA348524831	597	W>S		No	ClinGen gnomAD
rs1312916452 CA348524843	599	K>E		No	ClinGen TOPMed
CA348524845 rs1204961098	599	K>T		No	ClinGen TOPMed gnomAD
CA348524855 rs1250614249	600	A>V		No	ClinGen gnomAD
CA348524869 rs1480421439	602	A>V		No	ClinGen gnomAD
rs1488736892 CA348524903	607	Q>L		No	ClinGen gnomAD
rs1454786165 CA348524908	608	V>M		No	ClinGen gnomAD
rs1423706715 CA348524920	609	Q>H		No	ClinGen gnomAD
rs1171561715 CA348524931	611	D>G		No	ClinGen gnomAD
CA55556540 rs908925423	612	Q>K		No	ClinGen Ensembl
CA348524938 rs1421637148	612	Q>R		No	ClinGen TOPMed
CA348524948 rs1327550363	613	E>D		No	ClinGen gnomAD
rs1463715516 CA348524942	613	E>K		No	ClinGen gnomAD
rs1487473870 CA348525719	616	F>V		No	ClinGen gnomAD
CA348525741 rs1190506140	618	I>L		No	ClinGen gnomAD
CA1875436 rs149929276	621	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1875438 rs773463438	621	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs763117766 CA1875439	623	R>K		No	ClinGen ExAC gnomAD
rs1573719500 CA348525825	625	Q>K		No	ClinGen Ensembl
CA55557523 rs1048708853	626	A>V		No	ClinGen TOPMed gnomAD
CA1875440 rs767049509	627	M>T		No	ClinGen ExAC TOPMed
CA55557528 rs989274734	628	L>V		No	ClinGen Ensembl
rs142239119 CA1875441	631	S>C		No	ClinGen ESP ExAC TOPMed
CA55557547 rs868463529	632	K>*		No	ClinGen Ensembl
CA1875442 rs755446140	633	Q>E		No	ClinGen ExAC gnomAD
rs767802714 CA1875443	634	Q>H		No	ClinGen ExAC gnomAD
CA1875444 rs753084755	635	V>A		No	ClinGen ExAC TOPMed gnomAD
CA348525962 rs778534263	637	G>A		No	ClinGen ExAC TOPMed gnomAD
rs778534263 CA1875446	637	G>E		No	ClinGen ExAC TOPMed gnomAD
rs375298090 CA348525956	637	G>R		No	ClinGen ESP TOPMed gnomAD
CA55557571 rs375298090	637	G>R		No	ClinGen ESP TOPMed gnomAD
rs769132902 CA1875503	641	A>G		No	ClinGen ExAC gnomAD
CA348526010 rs1558906436	641	A>S		No	ClinGen Ensembl
CA348526360 rs1264315488	643	G>D		No	ClinGen gnomAD
CA1875505 rs528934869	644	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875504 rs146423704	644	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875506 rs544289984	645	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA348526385 rs1360759922	646	C>R		No	ClinGen TOPMed
CA1875508 rs1553447639	646	C>S		No	ClinGen Ensembl
rs1299863784 CA348526407	647	Y>*		No	ClinGen TOPMed
CA1875510 rs759041974	647	Y>C		No	ClinGen ExAC gnomAD
rs759041974 CA348526403	647	Y>S		No	ClinGen ExAC gnomAD
rs767165815 CA1875511	649	T>M		No	ClinGen ExAC gnomAD
rs61758709 CA1875513	650	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1875514 rs777849725	650	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1875515 rs753634743	651	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA55558560 rs753634743	651	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA1875516 rs150454399	651	Q>R		No	ClinGen ESP ExAC gnomAD
CA348526490 rs1573722694	655	A>T		No	ClinGen Ensembl
rs746136035 CA1875518	655	A>V		No	ClinGen ExAC TOPMed gnomAD
CA348526521 rs1414976036	657	P>H		No	ClinGen gnomAD
rs758503588 CA1875519	657	P>S		No	ClinGen ExAC gnomAD
rs138286451 CA348526562	660	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138286451 CA1875521	660	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1875520 rs780161113	660	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201555732 CA1875522	662	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs973869335 CA55558674	666	L>P		No	ClinGen Ensembl
CA1875524 rs748543061	667	V>L		No	ClinGen ExAC gnomAD
rs748543061 CA348526644	667	V>M		No	ClinGen ExAC gnomAD
rs770197202 CA1875525	669	A>T		No	ClinGen ExAC gnomAD
rs773406931 CA1875526	669	A>V		No	ClinGen ExAC TOPMed gnomAD
CA55558726 rs932106074	670	E>K		No	ClinGen Ensembl
rs767255877 CA1875528	672	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1875529 rs757787987	673	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757787987 CA55558776	673	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1875530 rs760249838	673	R>H		No	ClinGen ExAC gnomAD
rs760249838 CA348526707	673	R>P		No	ClinGen ExAC gnomAD
rs763640681 CA1875531	675	P>S		No	ClinGen ExAC gnomAD
rs763640681 CA348526743	675	P>T		No	ClinGen ExAC gnomAD
rs1279701848 CA348526761	676	S>F		No	ClinGen TOPMed
CA348526758 rs1301828517	676	S>P		No	ClinGen gnomAD
rs1399599243 CA348526770	677	T>I		No	ClinGen TOPMed gnomAD
rs1331407605 CA348526800	681	S>G		No	ClinGen gnomAD
rs750167225 CA1875535	682	I>V		No	ClinGen ExAC TOPMed gnomAD
rs142704840 CA1875537	684	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767872391 CA1875536	684	R>W		No	ClinGen ExAC gnomAD
CA1875541 rs202134743	687	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1875540 rs202134743	687	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367890416 CA55558838	689	R>C		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA348526865 rs946415096	689	R>H		No	ClinGen gnomAD
CA55558849 rs946415096	689	R>P		No	ClinGen gnomAD
CA348526882 rs1558908900	691	K>S		No	ClinGen Ensembl

No associated diseases with Q9NR80

4 regional properties for Q9NR80

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	284 - 468	IPR000219
conserved_site	Guanine-nucleotide dissociation stimulator, CDC24, conserved site	416 - 441	IPR001331
domain	SH3 domain	194 - 253	IPR001452
domain	Pleckstrin homology domain	499 - 608	IPR001849

Functions

		Description
EC Number
Subcellular Localization	[Isoform 3]: Cytoplasm Cell projection, ruffle membrane ; Peripheral membrane protein ; Cytoplasmic side	Associated with membrane ruffles
PANTHER Family	PTHR47544	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4
PANTHER Subfamily	PTHR47544:SF1	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator protein-binding activity modulator
PANTHER Pathway Category	No pathway information available

2 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.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.

2 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.
protein domain specific binding	Binding to a specific domain of a protein.

4 GO annotations of biological process

Name	Definition
filopodium assembly	The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
lamellipodium assembly	Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DL7	ARHGEF9	Rho guanine nucleotide exchange factor 9	Bos taurus (Bovine)	SS
Q70Z35	PREX2	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein	Homo sapiens (Human)	SS
Q6XZF7	DNMBP	Dynamin-binding protein	Homo sapiens (Human)	PR
A1IGU5	ARHGEF37	Rho guanine nucleotide exchange factor 37	Homo sapiens (Human)	PR
Q8TCU6	PREX1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Homo sapiens (Human)	EV
Q96N96	SPATA13	Spermatogenesis-associated protein 13	Homo sapiens (Human)	EV
O43307	ARHGEF9	Rho guanine nucleotide exchange factor 9	Homo sapiens (Human)	SS
Q5DU57	Spata13	Spermatogenesis-associated protein 13	Mus musculus (Mouse)	SS
Q3LAC4	Prex2	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein	Mus musculus (Mouse)	SS
Q69ZK0	Prex1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Mus musculus (Mouse)	SS
Q3UTH8	Arhgef9	Rho guanine nucleotide exchange factor 9	Mus musculus (Mouse)	SS
Q7TNR9	Arhgef4	Rho guanine nucleotide exchange factor 4	Mus musculus (Mouse)	EV

10	20	30	40	50	60
MPWEEPAGEK	PSCSHSQKAF	HMEPAQKPCF	TTDMVTWALL	CISAETVRGE	APSQPRGIPH
70	80	90	100	110	120
RSPVSVDDLW	LEKTQRKKLQ	KQAHVERRLH	IGAVHKDGVK	CWRKTIITSP	ESLNLPRRSH
130	140	150	160	170	180
PLSQSAPTGL	NHMGWPEHTP	GTAMPDGALD	TAVCADEVGS	EEDLYDDLHS	SSHHYSHPGG
190	200	210	220	230	240
GGEQLAINEL	ISDGSVVCAE	ALWDHVTMDD	QELGFKAGDV	IEVMDATNRE	WWWGRVADGE
250	260	270	280	290	300
GWFPASFVRL	RVNQDEPADD	DAPLAGNSGA	EDGGAEAQSS	KDQMRTNVIN	EILSTERDYI
310	320	330	340	350	360
KHLRDICEGY	VRQCRKRADM	FSEEQLRTIF	GNIEDIYRCQ	KAFVKALEQR	FNRERPHLSE
370	380	390	400	410	420
LGACFLEHQA	DFQIYSEYCN	NHPNACVELS	RLTKLSKYVY	FFEACRLLQK	MIDISLDGFL
430	440	450	460	470	480
LTPVQKICKY	PLQLAELLKY	THPQHRDFKD	VEAALHAMKN	VAQLINERKR	RLENIDKIAQ
490	500	510	520	530	540
WQSSIEDWEG	EDLLVRSSEL	IYSGELTRVT	QPQAKSQQRM	FFLFDHQLIY	CKKDLLRRDV
550	560	570	580	590	600
LYYKGRLDMD	GLEVVDLEDG	KDRDLHVSIK	NAFRLHRGAT	GDSHLLCTRK	PEQKQRWLKA
610	620	630	640	650	660
FAREREQVQL	DQETGFSITE	LQRKQAMLNA	SKQQVTGKPK	AVGRPCYLTR	QKHPALPSNR
670	680
PQQQVLVLAE	PRRKPSTFWH	SISRLAPFRK