AiPD: Autoinhibited Protein Database

Q8NEG7

Gene name	DENND6B (FAM116B)
Protein name	Protein DENND6B
Names	DENN domain-containing protein 6B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:414918
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

332-403 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

332-403 (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 Q8NEG7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NEG7-F1	Predicted				AlphaFoldDB

508 variants for Q8NEG7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1190496086 CA412145467	3	A>V		No	ClinGen TOPMed
CA412145460 rs1478060814	4	L>P		No	ClinGen TOPMed
rs917935282 CA325513300	5	L>F		No	ClinGen TOPMed
CA412145439 rs1187112324	5	L>S		No	ClinGen gnomAD
CA412145427 rs1455112453	6	G>C		No	ClinGen gnomAD
rs1393158853 CA412145423	6	G>D		No	ClinGen TOPMed
CA412145372 rs1159198881	9	P>L		No	ClinGen TOPMed
CA412145378 rs1433978576	9	P>S		No	ClinGen TOPMed
CA412145345 rs1362153693	10	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA412145337 rs1438568280	11	R>Q		No	ClinGen gnomAD
rs1380314674 CA412145338	11	R>W		No	ClinGen TOPMed
CA412145314 rs1275231933	13	R>C		No	ClinGen TOPMed gnomAD
rs937907314 CA325513296	17	G>S		No	ClinGen TOPMed gnomAD
CA412145205 rs1257331968	18	A>T		No	ClinGen TOPMed gnomAD
rs1356291683 CA412145174	19	A>P		No	ClinGen TOPMed
CA412145061 rs1451861679	24	S>A		No	ClinGen TOPMed
CA412145036 rs1233598911	25	G>V		No	ClinGen TOPMed gnomAD
rs1601844331 CA412145024	26	R>S		No	ClinGen Ensembl
CA325513288 rs1015256194	28	A>S		No	ClinGen TOPMed gnomAD
rs1206927767 CA412144949	30	T>I		No	ClinGen TOPMed gnomAD
rs1206927767 CA412144951	30	T>S		No	ClinGen TOPMed gnomAD
rs982510549 CA325513285	31	P>S		No	ClinGen TOPMed gnomAD
rs1274076232 CA412144910	32	A>V		No	ClinGen gnomAD
CA412144864 rs1211502570	36	A>T		No	ClinGen TOPMed gnomAD
CA412144852 rs1328190217	37	R>C		No	ClinGen TOPMed
rs1601844222 CA412144846	37	R>L		No	ClinGen Ensembl
CA325513281 rs868284524	40	A>V		No	ClinGen Ensembl
rs1443927585 CA412144796	42	L>V		No	ClinGen gnomAD
rs1368793690 CA412144725	48	V>I		No	ClinGen TOPMed
rs1569212672 CA412144587	58	L>P		No	ClinGen Ensembl
rs762680364 CA10314456	60	L>M		No	ClinGen ExAC gnomAD
rs1304706327 CA412142208	62	Y>C		No	ClinGen TOPMed gnomAD
rs374339389 CA10314455	63	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374339389 CA412142191	63	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356378062 CA412142160	65	D>E		No	ClinGen gnomAD
CA10314452 rs776658196	65	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1012797479 CA325507528	66	F>L		No	ClinGen TOPMed
rs1054756736 CA325507521	67	R>Q		No	ClinGen TOPMed gnomAD
rs570566670 CA10314451	67	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412142125 rs1225540574	70	D>E		No	ClinGen TOPMed
rs1195202546 CA412142136	70	D>N		No	ClinGen gnomAD
rs768422643 CA10314433	76	I>M		No	ClinGen ExAC gnomAD
TCGA novel	79	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770966871 CA412141914	83	D>H		No	ClinGen ExAC TOPMed gnomAD
rs770966871 CA10314428	83	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10314427 rs749562796	84	S>L		No	ClinGen ExAC gnomAD
rs765887829 CA412141860	86	S>*		No	ClinGen TOPMed
rs765887829 CA325507433	86	S>L		No	ClinGen TOPMed
rs757983446 CA10314400	87	G>D		No	ClinGen ExAC gnomAD
CA325507432 rs1017694842	87	G>R		No	ClinGen Ensembl
rs757983446 CA412141761	87	G>V		No	ClinGen ExAC gnomAD
CA10314399 rs749896849	88	C>R		No	ClinGen ExAC gnomAD
rs757041234 CA10314397	89	L>F		No	ClinGen ExAC gnomAD
TCGA novel	90	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763844016 CA10314395	92	T>A		No	ClinGen ExAC gnomAD
rs1396148210 CA412141688	93	Q>H		No	ClinGen gnomAD
CA10314394 rs760470311	93	Q>R		No	ClinGen ExAC gnomAD
rs373923302 CA10314393	97	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369785879 CA10314392	97	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA412141634 rs369785879	97	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs773346352 CA10314390	99	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA325507079 rs202176698	99	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs202176698 CA10314389	99	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA412141587 rs761991241	101	C>G		No	ClinGen ExAC TOPMed gnomAD
CA10314388 rs761991241	101	C>R		No	ClinGen ExAC TOPMed gnomAD
CA325507072 rs866099253	102	G>E		No	ClinGen Ensembl
CA10314383 rs575833760	111	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376619358 CA10314384	111	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA412141442 rs1451091458	111	D>V		No	ClinGen gnomAD
rs971572155 CA325507067	112	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs778611077 CA10314381	114	H>Y		No	ClinGen ExAC gnomAD
rs748915199 CA10314379	115	Y>C		No	ClinGen ExAC gnomAD
CA412141357 rs1234668631	117	S>G		No	ClinGen gnomAD
CA412141352 rs1369491686	117	S>N		No	ClinGen gnomAD
CA412141316 rs1435359127	120	P>A		No	ClinGen gnomAD
CA10314378 rs777442727	121	V>G		No	ClinGen ExAC TOPMed gnomAD
CA412141306 rs1335826564	121	V>M		No	ClinGen gnomAD
rs755868070 CA10314377	123	L>P		No	ClinGen ExAC gnomAD
rs761271002 CA10314354	127	P>L		No	ClinGen ExAC TOPMed gnomAD
CA325506873 rs867945160	128	A>S		No	ClinGen Ensembl
rs764078847 CA10314351	128	A>V		No	ClinGen ExAC gnomAD
rs768016593 CA10314349	129	H>Q		No	ClinGen ExAC gnomAD
rs991797178 CA325506870	129	H>R		No	ClinGen TOPMed
CA10314350 rs575697639	129	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA412140918 rs1301612857	130	Y>*		No	ClinGen gnomAD
rs375952709 CA10314347	130	Y>C		No	ClinGen ExAC gnomAD
rs1389872210 CA412140907	131	F>S		No	ClinGen gnomAD
rs370248758 CA412140898	132	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370248758 CA10314345	132	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1411314374 CA412140889	132	G>V		No	ClinGen gnomAD
rs373480065 CA10314343 CA412140863	133	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376137423 CA10314344	133	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs780783404 CA10314340	134	V>A		No	ClinGen ExAC gnomAD
rs747816538 CA10314341	134	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1464670377 CA412140708	140	K>T		No	ClinGen TOPMed gnomAD
CA325506851 rs1014693847	143	S>C		No	ClinGen TOPMed
CA412140614 rs1206436696	144	V>L		No	ClinGen gnomAD
CA412140597 rs1175520743	145	K>*		No	ClinGen TOPMed
rs1358682911 CA412140478	150	Q>H		No	ClinGen gnomAD
rs377352871 CA325506846	151	K>Q		No	ClinGen ESP TOPMed gnomAD
CA10314296 rs755057088	154	V>M		No	ClinGen ExAC gnomAD
rs570201041 CA10314294	156	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA10314292 rs747039298	158	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10314291 rs536300680	158	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757798970 CA10314290	160	P>H		No	ClinGen ExAC gnomAD
CA412139182 rs201899701	162	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs201899701 CA10314287	162	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs532861569 CA10314285	163	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775213918 CA10314286	163	R>W		No	ClinGen ExAC TOPMed gnomAD
rs571592868 CA10314284	167	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1197647964 CA412139101	169	L>Q		No	ClinGen TOPMed
rs1269206774 CA412139094	170	S>G		No	ClinGen gnomAD
CA10314282 rs770821142	170	S>N		No	ClinGen ExAC gnomAD
rs749257538 CA10314281	171	L>P		No	ClinGen ExAC gnomAD
rs768858189 CA412139067	172	I>L		No	ClinGen ExAC TOPMed gnomAD
CA412139059 rs1428891754	172	I>S		No	ClinGen TOPMed
rs768858189 CA10314279	172	I>V		No	ClinGen ExAC TOPMed gnomAD
CA325506642 rs901355479	173	A>T		No	ClinGen gnomAD
rs1601816595 CA412139034	174	P>R		No	ClinGen Ensembl
CA10314276 rs758613311	175	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10314275 rs746070036	176	Y>C		No	ClinGen ExAC gnomAD
rs1456190337 CA412138993	177	F>L		No	ClinGen gnomAD
rs1170239464 CA412138982	177	F>L		No	ClinGen TOPMed
rs779301016 CA10314274	178	D>E		No	ClinGen ExAC gnomAD
rs1196768725 CA412138952	179	K>N		No	ClinGen gnomAD
rs1490217003 CA412138948	180	L>V		No	ClinGen gnomAD
rs757569865 CA412138935	181	A>E		No	ClinGen ExAC TOPMed gnomAD
CA10314273 rs757569865	181	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10314269 rs752211433	186	A>T		No	ClinGen ExAC gnomAD
CA10314246 rs750309764	187	V>A		No	ClinGen ExAC TOPMed gnomAD
CA412138787 rs1601815757	189	S>C		No	ClinGen Ensembl
rs1269630436 CA412138763	190	E>D		No	ClinGen TOPMed gnomAD
rs772077237 CA10314242	192	D>N		No	ClinGen ExAC gnomAD
rs370799673 CA10314241	193	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1206031 CA10314240 rs774569952	195	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749511894 COSM1035430 CA10314238	196	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10314236 rs770176537	197	P>L		No	ClinGen ExAC gnomAD
CA10314235 rs201514629	198	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746572909 CA10314232	201	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA10314231 rs779706268	202	T>I		No	ClinGen ExAC gnomAD
CA412138606 rs779706268	202	T>N		No	ClinGen ExAC gnomAD
rs1182678308 CA412138547	206	P>S		No	ClinGen TOPMed gnomAD
CA412138565 rs1182678308	206	P>T		No	ClinGen TOPMed gnomAD
CA412138533 rs1236861824	208	M>T		No	ClinGen TOPMed
rs1449880304 CA412138536	208	M>V		No	ClinGen gnomAD
rs1249450942 CA412138514	209	G>D		No	ClinGen gnomAD
CA412138509 rs1485241907	210	V>I		No	ClinGen TOPMed gnomAD
CA412138413 rs1601815177	214	V>G		No	ClinGen Ensembl
rs1483582433 CA412138424	214	V>L		No	ClinGen gnomAD
rs776841868 CA10314216	215	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776841868 CA412138408	215	R>G		No	ClinGen ExAC TOPMed gnomAD
rs11553143 CA10314215	215	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11553143 CA412138402	215	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1307066693 CA412138398	216	I>V		No	ClinGen gnomAD
rs200196394 CA10314214	217	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs779757507 CA10314213	219	R>K		No	ClinGen ExAC gnomAD
CA412138359 rs779757507	219	R>T		No	ClinGen ExAC gnomAD
CA10314212 rs757931915	220	V>A		No	ClinGen ExAC gnomAD
CA10314211 rs377015069	222	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314210 rs778563590	222	K>T		No	ClinGen ExAC TOPMed gnomAD
CA10314208 rs369068682	224	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1177823387 CA412138271	225	S>F		No	ClinGen gnomAD
rs752611071 CA10314205	227	P>L		No	ClinGen ExAC gnomAD
rs201688604 CA10314206	227	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766471515 CA10314204	228	P>L		No	ClinGen ExAC TOPMed gnomAD
CA325506568 rs766471515	228	P>R		No	ClinGen ExAC TOPMed gnomAD
CA412138230 rs1338672855	229	K>E		No	ClinGen TOPMed
rs62241230 CA412138204	230	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10314201 rs761932421	232	D>E		No	ClinGen ExAC gnomAD
CA325506563 rs975016024	233	Q>E		No	ClinGen TOPMed
rs369671323 CA10314199	234	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA412137887 rs1157337371	238	P>Q		No	ClinGen gnomAD
rs773955102 CA10314175	242	V>A		No	ClinGen ExAC gnomAD
rs1189512879 CA412137860	243	L>V		No	ClinGen gnomAD
CA10314174 rs374416359	244	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314173 rs141024652	244	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1356875036 CA412137849	245	S>R		No	ClinGen gnomAD
CA10314172 rs749223526	246	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412137831 rs371493754	247	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358525956 CA412137834	247	H>R		No	ClinGen gnomAD
rs201311174 CA10314170	248	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1000983662 CA325505196	250	D>H		No	ClinGen gnomAD
CA325505182 rs963868967	252	F>C		No	ClinGen TOPMed
TCGA novel	254	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10314147 rs202144405	256	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10314146 rs202144405	256	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779788990 CA10314148	256	R>W		No	ClinGen ExAC TOPMed gnomAD
CA412137756 rs1400325799	257	P>L		No	ClinGen gnomAD
rs375682086 CA10314143	261	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs375682086 CA412137716	261	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423377765 CA412137699	262	M>T		No	ClinGen TOPMed gnomAD
rs1222375892 CA412137704	262	M>V		No	ClinGen gnomAD
rs1368837934 CA412137685	263	Q>*		No	ClinGen TOPMed
TCGA novel	263	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444784384 CA412137656	265	L>Q		No	ClinGen TOPMed gnomAD
rs766850057 CA10314139	266	W>*		No	ClinGen ExAC gnomAD
CA412137637 rs1164174195	266	W>*		No	ClinGen gnomAD
rs1569199097 CA412137617	268	L>F		No	ClinGen Ensembl
CA412137598 rs1408594537	269	M>R		No	ClinGen gnomAD
CA412137599 rs1408594537	269	M>T		No	ClinGen gnomAD
CA412137588 rs1174282772	270	L>F		No	ClinGen gnomAD
CA10314136 CA10314135 rs375200663	272	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA412137538 rs200291783	273	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325504703 rs955257069	274	P>S		No	ClinGen TOPMed gnomAD
CA412137533 rs955257069	274	P>T		No	ClinGen TOPMed gnomAD
rs775343390 CA10314131	277	V>G		No	ClinGen ExAC gnomAD
CA10314130 rs771970749	279	A>V		No	ClinGen ExAC gnomAD
rs533282496 CA10314129	280	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533282496 CA412137465	280	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA325504692 rs533282496	280	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371843726 CA10314128	281	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201272848 CA10314125	283	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766730991 CA10314122	284	V>A		No	ClinGen ExAC gnomAD
rs751931621 CA10314123	284	V>M		No	ClinGen ExAC gnomAD
rs1256536460 CA412137382	285	S>F		No	ClinGen TOPMed
TCGA novel	285	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10314121 rs555890766	285	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367892900 CA10314119	286	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10314117 rs776358954	288	M>T		No	ClinGen ExAC gnomAD
rs1474913173 CA412137347	288	M>V		No	ClinGen TOPMed
rs969230495 CA325504661	293	T>S		No	ClinGen TOPMed
CA10314116 rs763710719	294	S>G		No	ClinGen ExAC TOPMed gnomAD
CA412137241 rs1446245908	294	S>N		No	ClinGen gnomAD
rs977918235 CA325504600	296	L>V		No	ClinGen gnomAD
CA412137115 rs1230980030	297	Q>*		No	ClinGen TOPMed
CA10314093 rs771054007	298	P>S		No	ClinGen ExAC TOPMed gnomAD
rs968304762 CA325504594	300	R>K		No	ClinGen Ensembl
rs1429463506 CA412137042	301	F>L		No	ClinGen TOPMed gnomAD
CA325504591 rs889290206	302	C>Y		No	ClinGen TOPMed
CA412137020 rs1200769994	303	C>G		No	ClinGen gnomAD
rs1012755068 CA325504586	304	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs374750917 CA10314091	306	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268156110 CA412136966	306	R>H		No	ClinGen TOPMed
rs747638587 CA10314090	307	P>R		No	ClinGen ExAC gnomAD
CA412136945 rs1481191393	308	Y>H		No	ClinGen gnomAD
CA412136898 rs1435386399	310	T>A		No	ClinGen TOPMed
CA412136900 rs1435386399	310	T>P		No	ClinGen TOPMed
CA10314089 rs371364338	310	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160081441 CA412136848	312	H>R		No	ClinGen TOPMed
CA325504575 rs868174137	313	D>Y		No	ClinGen Ensembl
CA10314086 rs141200251	314	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412136792 rs1569198547	315	E>K		No	ClinGen Ensembl
CA412136768 rs1343522016	316	F>L		No	ClinGen gnomAD
rs755598249 CA325504566	317	K>*		No	ClinGen TOPMed gnomAD
rs755598249 CA412136738	317	K>E		No	ClinGen TOPMed gnomAD
rs1391740018 CA412136697	318	E>G		No	ClinGen gnomAD
TCGA novel	320	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10314082 rs754349882	322	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754349882 CA325504551	322	R>G		No	ClinGen ExAC gnomAD
rs1039167257 CA325504548	322	R>H		No	ClinGen TOPMed gnomAD
rs754349882 CA412136603	322	R>S		No	ClinGen ExAC gnomAD
rs370513147 CA412136580	323	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370513147 CA10314081	323	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs370513147 CA412136578	323	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA412136567 rs1427782949	324	Q>R		No	ClinGen gnomAD
CA412136548 rs1198824796	325	A>G		No	ClinGen TOPMed gnomAD
rs1198824796 CA412136545	325	A>V		No	ClinGen TOPMed gnomAD
rs376050773 CA10314079	326	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750339215 CA10314049	328	N>S		No	ClinGen ExAC gnomAD
CA325504440 rs1007719572	329	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs761650328 CA10314047	333	V>D		No	ClinGen ExAC gnomAD
rs1259532532 CA412136387	333	V>F		No	ClinGen gnomAD
rs775586339 CA10314046	334	T>I		No	ClinGen ExAC gnomAD
rs1219979963 CA412136376	335	N>D		No	ClinGen TOPMed gnomAD
CA412136375 rs1219979963	335	N>Y		No	ClinGen TOPMed gnomAD
CA412136366 rs1355159301	336	P>H		No	ClinGen gnomAD
CA10314044 rs759776946	339	I>V		No	ClinGen ExAC gnomAD
CA325504435 rs889561245	341	T>I		No	ClinGen TOPMed gnomAD
CA412136257 rs1278664046	344	H>D		No	ClinGen gnomAD
rs749611787 CA10314041	344	H>Q		No	ClinGen ExAC gnomAD
rs1239589604 CA412136255	344	H>R		No	ClinGen TOPMed
rs983924692 CA325504434	345	W>*		No	ClinGen TOPMed gnomAD
rs1305272387 CA412136229	346	P>L		No	ClinGen gnomAD
CA10314040 rs773439459	346	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770403466 CA10314039	347	H>Y		No	ClinGen ExAC gnomAD
rs780867905 CA10314037	348	I>V		No	ClinGen ExAC gnomAD
rs1371464223 CA412136197	349	L>F		No	ClinGen gnomAD
rs1193054872 CA412136188	350	R>*		No	ClinGen gnomAD
CA10314036 rs754494321	350	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10314033 rs757973302	352	G>R		No	ClinGen ExAC gnomAD
rs1166086227 CA412136156	353	E>K		No	ClinGen TOPMed
CA412136141 rs750299559	354	P>A		No	ClinGen ExAC gnomAD
CA10314032 rs750299559	354	P>T		No	ClinGen ExAC gnomAD
CA10314031 rs764908949	355	K>R		No	ClinGen ExAC gnomAD
CA412136129 rs764908949	355	K>T		No	ClinGen ExAC gnomAD
rs1342709345 CA412136102	356	M>I		No	ClinGen gnomAD
rs761231753 CA10314000	358	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1601809166 CA412136023	359	D>A		No	ClinGen Ensembl
rs775114121 CA10313999	359	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771435103 CA10313998	361	P>S		No	ClinGen ExAC gnomAD
rs376767330 CA10313997	362	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1332417015 CA412135993	362	K>Q		No	ClinGen TOPMed
CA412135976 rs1445891845	363	Q>*		No	ClinGen TOPMed gnomAD
rs778364829 CA10313996	363	Q>R		No	ClinGen ExAC gnomAD
rs1379533292 CA412135935	366	L>Q		No	ClinGen gnomAD
CA412135917 rs1446025476	367	K>R		No	ClinGen gnomAD
CA10313993 rs764973258	368	K>N		No	ClinGen ExAC gnomAD
rs1356431588 CA412135896	369	P>S		No	ClinGen TOPMed
rs1180734386 CA412135884	371	R>G		No	ClinGen gnomAD
CA325504286 rs369498737	371	R>K		No	ClinGen ESP TOPMed gnomAD
CA412135868 rs1270739449	373	K>R		No	ClinGen TOPMed
rs772756513 CA325504282	374	T>I		No	ClinGen TOPMed gnomAD
rs772756513 CA325504284	374	T>N		No	ClinGen TOPMed gnomAD
rs756089259 CA10313992	375	L>P		No	ClinGen ExAC gnomAD
CA412135854 rs1252382496	376	D>N		No	ClinGen TOPMed
CA412135837 rs1285672627	378	K>R		No	ClinGen TOPMed gnomAD
CA412135836 rs1285672627	378	K>T		No	ClinGen TOPMed gnomAD
rs752558999 CA10313991	379	P>T		No	ClinGen ExAC gnomAD
rs753268690 CA10313964	381	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1308431165 CA412135794	383	T>N		No	ClinGen TOPMed
CA325504169 rs377719391	384	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10313961 rs377719391	384	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA412135779 rs1258975213	386	T>A		No	ClinGen TOPMed
CA10313959 rs374647332	386	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374647332 CA412135775	386	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1601807907 CA412135764	388	H>P		No	ClinGen Ensembl
rs747945924 CA10313956	388	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs768544990 CA10313954	390	H>P		No	ClinGen ExAC gnomAD
CA10313955 rs768544990	390	H>R		No	ClinGen ExAC gnomAD
rs746954246 CA10313953	391	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10313951 rs372222188	391	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10313952 rs372222188	391	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1035426 CA10313949 rs534371048	392	D>N	Variant assessed as Somatic; 4.756e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA412135745 rs534371048	392	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10313948 rs753041370	393	K>N		No	ClinGen ExAC TOPMed gnomAD
rs781614234 CA10313946	394	A>T		No	ClinGen ExAC gnomAD
rs755492151 CA10313945	394	A>V		No	ClinGen ExAC TOPMed gnomAD
CA412135722 rs1384119487	396	L>V		No	ClinGen gnomAD
TCGA novel	398	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764912026 CA10313940	398	R>G		No	ClinGen ExAC TOPMed gnomAD
rs761524882 CA10313939	398	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764912026 COSM1035425 CA325504151	398	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs776349051 CA10313938	400	L>F		No	ClinGen ExAC gnomAD
CA412134711 rs1366391902	402	G>C		No	ClinGen gnomAD
rs1165268521 CA412134708	402	G>D		No	ClinGen gnomAD
CA10313912 rs68178377	403	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412134670 rs748318351	404	Q>*		No	ClinGen ExAC gnomAD
CA10313911 rs748318351	404	Q>E		No	ClinGen ExAC gnomAD
rs1260984254 CA412134629	405	K>N		No	ClinGen gnomAD
rs369779558 CA10313910	406	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768741439 CA10313909	406	K>R		No	ClinGen ExAC gnomAD
rs563960196 CA10313906	407	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10313907 rs780395120	407	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778291480 CA10313904	408	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778291480 CA10313905	408	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1219957737 CA412134582	408	P>S		No	ClinGen gnomAD
rs372994621 CA10313902	410	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346599699 CA412134554	411	V>M		No	ClinGen gnomAD
rs763855222 CA10313901	412	Q>H		No	ClinGen ExAC gnomAD
rs1385235667 CA412134515	413	S>G		No	ClinGen gnomAD
rs970400806 CA325504119	413	S>N		No	ClinGen Ensembl
rs368931236 CA10313899	414	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201791970 CA10313896	417	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10313895 rs201791970	417	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs529694145 CA10313897	417	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369679219 CA412134431	418	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10313892 rs369679219	418	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10313893 rs201519448	418	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412134418 rs1450857493	419	H>L		No	ClinGen TOPMed
rs747221557 CA10313890	424	T>N		No	ClinGen ExAC TOPMed gnomAD
CA10313889 rs576503959	425	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA412134343 rs1346330578	426	S>N		No	ClinGen TOPMed gnomAD
CA412134337 rs1471284127	426	S>R		No	ClinGen TOPMed
CA10313888 rs558360929	427	F>C		No	ClinGen 1000Genomes ExAC gnomAD
CA412134289 rs1330714578	428	I>M		No	ClinGen gnomAD
rs372261837 CA10313887	428	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA325504105 rs866808291	429	I>T		No	ClinGen Ensembl
CA325504103 rs901856677	430	P>S		No	ClinGen Ensembl
rs1348817415 CA412134159	432	E>*		No	ClinGen TOPMed
CA412134091 rs1341063564	435	M>I		No	ClinGen gnomAD
rs1299754806 CA412134068	436	A>D		No	ClinGen gnomAD
rs772449990 CA10313868	437	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1406600939 CA412133987	440	P>R		No	ClinGen gnomAD
CA10313867 rs552842297	440	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA412133972 rs1180788258	441	L>Q		No	ClinGen TOPMed gnomAD
rs1472729086 CA412133957	442	Q>K		No	ClinGen gnomAD
rs1264571656 CA412133909	443	K>N		No	ClinGen gnomAD
CA412133886 rs1455289079	445	I>V		No	ClinGen TOPMed
CA10313865 rs562247869	446	T>M		No	ClinGen ExAC TOPMed gnomAD
CA412133843 rs562247869	446	T>R		No	ClinGen ExAC TOPMed gnomAD
CA412133838 rs1262724139	447	P>A		No	ClinGen TOPMed gnomAD
CA10313863 rs777347589	447	P>L		No	ClinGen ExAC gnomAD
CA412133839 rs1262724139	447	P>S		No	ClinGen TOPMed gnomAD
rs1323735463 CA412133817	448	W>*		No	ClinGen gnomAD
rs1323735463 CA412133815	448	W>C		No	ClinGen gnomAD
CA412133806 rs1159813189	449	K>E		No	ClinGen TOPMed
CA325504049 rs867434358	449	K>N		No	ClinGen Ensembl
rs1601804989 CA412133724	450	T>P		No	ClinGen Ensembl
rs1601804977 CA412133715	451	P>L		No	ClinGen Ensembl
rs1464468797 CA412133716	451	P>S		No	ClinGen gnomAD
CA412133709 rs769447051	452	P>H		No	ClinGen ExAC TOPMed gnomAD
rs769447051 CA10313842	452	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769447051 CA412133708	452	P>R		No	ClinGen ExAC TOPMed gnomAD
CA10313840 rs200103246	453	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200103246 CA325503941	453	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772127145	453	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs772127145	453	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1193316098 CA412133687	455	Q>H		No	ClinGen gnomAD
CA412133669 rs1240046029	458	S>N		No	ClinGen TOPMed gnomAD
CA325503934 rs958454184	459	Q>P		No	ClinGen TOPMed
rs1175465300 CA412133644	461	D>V		No	ClinGen TOPMed
rs1457233755 CA412133630	463	L>P		No	ClinGen TOPMed gnomAD
rs377653609 CA10313838	464	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10313837 rs746588704	464	R>H		No	ClinGen ExAC TOPMed gnomAD
CA412133620 rs758090104	465	S>I		No	ClinGen ExAC TOPMed gnomAD
CA10313835 rs758090104	465	S>T		No	ClinGen ExAC TOPMed gnomAD
rs201782165 CA10313833	467	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412133601 rs1445438424	468	H>R		No	ClinGen gnomAD
rs1396364265 CA412133577	472	Q>*		No	ClinGen gnomAD
rs757154750 CA10313832	472	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA412133568 rs1467900208	473	L>P		No	ClinGen TOPMed gnomAD
CA412133558 rs1357722296	475	C>G		No	ClinGen TOPMed gnomAD
rs1173425250 CA412133546	476	I>M		No	ClinGen gnomAD
CA10313831 rs752840146	477	L>F		No	ClinGen ExAC gnomAD
rs1382433711 CA412133542	477	L>P		No	ClinGen TOPMed gnomAD
CA412133544 rs752840146	477	L>V		No	ClinGen ExAC gnomAD
rs867591210 CA325503923	479	G>C		No	ClinGen Ensembl
CA412133530 rs1176823641	479	G>D		No	ClinGen gnomAD
CA412133527 COSM1035423 rs1256761088	480	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA412133525 rs1256761088	480	D>Y		No	ClinGen TOPMed gnomAD
rs1183594427 CA412133511	481	W>C		No	ClinGen gnomAD
CA412133507 rs1468798541	482	L>P		No	ClinGen TOPMed
rs759816229 CA10313829	484	L>P		No	ClinGen ExAC gnomAD
rs1279268811 CA412133498	484	L>V		No	ClinGen TOPMed gnomAD
rs549475217 CA10313811	487	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10313812 rs564493613	487	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1601803170 CA412133462	488	F>V		No	ClinGen Ensembl
rs1417043880 CA412133411	495	D>N		No	ClinGen TOPMed gnomAD
rs1417043880 CA412133412	495	D>Y		No	ClinGen TOPMed gnomAD
rs1478676370 CA412133386	498	Y>F		No	ClinGen gnomAD
CA10313809 rs754969072	499	R>Q		No	ClinGen ExAC gnomAD
rs781252238 CA10313810	499	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766554763 CA10313807	501	R>Q		No	ClinGen ExAC gnomAD
CA10313808 rs751826381	501	R>W		No	ClinGen ExAC TOPMed gnomAD
CA325503858 rs1024580623	502	H>Y		No	ClinGen gnomAD
CA412133357 rs1273103336	503	K>R		No	ClinGen gnomAD
CA412133352 rs1320640450	504	E>K		No	ClinGen gnomAD
CA325503855 rs1004434370	505	M>I		No	ClinGen TOPMed
CA10313804 rs765641629	505	M>T		No	ClinGen ExAC gnomAD
rs1210112970 CA412133343	505	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10313803 rs375517464	506	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs897322208 CA325503852	506	A>V		No	ClinGen gnomAD
CA325503849 rs1029805720	508	K>R		No	ClinGen TOPMed gnomAD
rs371327605 CA325503847	511	A>T		No	ClinGen ESP TOPMed gnomAD
rs868219317 CA325503845	511	A>V		No	ClinGen Ensembl
rs771688525 CA10313798	513	H>Y		No	ClinGen ExAC gnomAD
CA412133277 rs1196389624	515	E>D		No	ClinGen gnomAD
rs1453429045 CA412133259	517	I>T		No	ClinGen gnomAD
CA412133246 rs1200007215	518	C>R		No	ClinGen gnomAD
rs373383489 CA10313795	518	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10313794 rs749252524	520	A>V		No	ClinGen ExAC TOPMed gnomAD
rs780005592 CA10313770	522	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1406517931 CA412133136	522	I>V		No	ClinGen gnomAD
rs772241822 CA10313769	523	E>K		No	ClinGen ExAC TOPMed gnomAD
CA412133096 rs1239765966	524	T>S		No	ClinGen gnomAD
CA10313767 rs202213925	525	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485585210 CA412133074	525	W>S		No	ClinGen gnomAD
rs1362977940 CA412133063	526	M>V		No	ClinGen Ensembl
rs778185525 CA10313764	531	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA412132936 rs1228992250	532	V>M		No	ClinGen gnomAD
CA10313763 rs756590765	533	E>A		No	ClinGen ExAC gnomAD
CA412132907 rs756590765	533	E>G		No	ClinGen ExAC gnomAD
rs1291412877 CA412132916	533	E>K		No	ClinGen gnomAD
CA412132890 rs1340967789	534	V>A		No	ClinGen gnomAD
rs766966660 CA10313761 COSM1417087	535	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA412132838 rs1569194606	536	D>A		No	ClinGen Ensembl
CA412132747 rs1323612013	539	L>P		No	ClinGen gnomAD
rs200756083 CA10313759	540	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10313758 rs369110676	541	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10313757 rs267606289	542	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs772899786 CA10313756	542	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772899786 CA412132677	542	R>P		No	ClinGen ExAC TOPMed gnomAD
CA412132665 rs1424718785	543	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1239069962 CA412132631	545	L>P		No	ClinGen TOPMed
rs764968154 CA325503769	546	V>L		No	ClinGen ExAC TOPMed
rs764968154 CA10313737	546	V>M		No	ClinGen ExAC TOPMed
CA412132503 rs537118220	547	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10313735 rs537118220	547	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10313736 COSM1417086 rs761717266	547	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764196737 CA10313734	548	A>V		No	ClinGen ExAC gnomAD
rs1268524032 CA412132447	550	G>D		No	ClinGen TOPMed
rs774585454 CA10313732	554	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771066197 CA10313731	555	V>L		No	ClinGen ExAC gnomAD
CA10313730 rs749502822	557	E>D		No	ClinGen ExAC gnomAD
rs1186462987 CA412132286	558	A>S		No	ClinGen TOPMed
rs773433892 CA10313729	559	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10313728 rs769880959	559	T>M		No	ClinGen ExAC TOPMed gnomAD
rs747452568 CA412132234	562	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10313724 rs747452568	562	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10313725 rs755533884	562	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10313723 rs779572674	563	A>T		No	ClinGen ExAC gnomAD
CA10313721 rs376393455	564	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480278899 CA412132206	565	L>Q		No	ClinGen gnomAD
rs1344197885 CA412132175	567	I>S		No	ClinGen TOPMed
rs1212016688 CA412132183	567	I>V		No	ClinGen TOPMed gnomAD
CA412132152 rs1279220231	569	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs367904270 CA10313717	571	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10313715 rs371312738	572	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368341514 CA325503747	573	S>F		No	ClinGen ESP TOPMed
rs368341514 CA325503748	573	S>Y		No	ClinGen ESP TOPMed
CA412132084 rs1373856199	575	P>L		No	ClinGen gnomAD
rs776990441 CA10313709	578	L>R		No	ClinGen ExAC gnomAD
CA10313708 rs768971479	580	A>P		No	ClinGen ExAC TOPMed gnomAD
CA412132013 rs1157044724	580	A>V		No	ClinGen gnomAD
rs199779339 CA10313707	585	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768302783 CA10313706	586	P>E		No	ClinGen ExAC TOPMed gnomAD
rs768302783 CA10313705	586	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	586	P>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8NEG7

2 regional properties for Q8NEG7

Type	Name	Position	InterPro Accession
domain	AVL9/DENND6 domain	43 - 178	IPR018307
domain	Tripartite DENN domain	43 - 499	IPR037516

Functions

		Description
EC Number
Subcellular Localization	Recycling endosome Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
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.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.

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.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5F3L4	DENND6A	Protein DENND6A	Gallus gallus (Chicken)	PR
Q8IWF6	DENND6A	Protein DENND6A	Homo sapiens (Human)	PR
Q8BH65	Dennd6a	Protein DENND6A	Mus musculus (Mouse)	PR
Q9D9V7	Dennd6b	Protein DENND6B	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDALLGTGPR	RARGCLGAAG	PTSSGRAART	PAAPWARFSA	WLECVCVVTF	DLELGQALEL
70	80	90	100	110	120
VYPNDFRLTD	KEKSSICYLS	FPDSHSGCLG	DTQFSFRMRQ	CGGQRSPWHA	DDRHYNSRAP
130	140	150	160	170	180
VALQREPAHY	FGYVYFRQVK	DSSVKRGYFQ	KSLVLVSRLP	FVRLFQALLS	LIAPEYFDKL
190	200	210	220	230	240
APCLEAVCSE	IDQWPAPAPG	QTLNLPVMGV	VVQVRIPSRV	DKSESSPPKQ	FDQENLLPAP
250	260	270	280	290	300
VVLASVHELD	LFRCFRPVLT	HMQTLWELML	LGEPLLVLAP	SPDVSSEMVL	ALTSCLQPLR
310	320	330	340	350	360
FCCDFRPYFT	IHDSEFKEFT	TRTQAPPNVV	LGVTNPFFIK	TLQHWPHILR	VGEPKMSGDL
370	380	390	400	410	420
PKQVKLKKPS	RLKTLDTKPG	LYTAYTAHLH	RDKALLKRLL	KGVQKKRPSD	VQSALLRRHL
430	440	450	460	470	480
LELTQSFIIP	LEHYMASLMP	LQKSITPWKT	PPQIQPFSQD	DFLRSLEHAG	PQLTCILKGD
490	500	510	520	530	540
WLGLYRRFFK	SPHFDGWYRQ	RHKEMALKLE	ALHLEAICEA	NIETWMKDKS	EVEVVDLVLK
550	560	570	580
LREKLVRAQG	HQLPVKEATL	QRAQLYIETV	IGSLPKDLQA	VLCPP