AiPD: Autoinhibited Protein Database

Q96RF0

Gene name	SNX18
Protein name	Sorting nexin-18
Names	SH3 and PX domain-containing protein 3B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:112574
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

26-306 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

26-306 (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 Q96RF0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96RF0-F1	Predicted				AlphaFoldDB

536 variants for Q96RF0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA359722146 rs1355778996	2	A>G		No	ClinGen TOPMed
COSM129346 CA359722154 rs1300981657	4	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA359722166 rs1469688388	6	R>W		No	ClinGen TOPMed gnomAD
rs1159260645 CA359722175	7	A>V		No	ClinGen gnomAD
CA359722182 rs1408597146	9	Y>H		No	ClinGen gnomAD
rs908877955 CA359722196	10	D>E		No	ClinGen TOPMed
CA3264709 rs761895660	11	F>C		No	ClinGen ExAC gnomAD
CA118897078 rs767797857	11	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3264711 rs370346240	12	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415229740 CA359722212	13	S>*		No	ClinGen gnomAD
CA359722219 rs1237671087	14	E>G		No	ClinGen gnomAD
rs1348281648 CA359722215	14	E>K		No	ClinGen gnomAD
rs530216828 CA118897102	17	G>*		No	ClinGen 1000Genomes ExAC gnomAD
rs530216828 CA3264714	17	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1213550661 CA359722248	18	E>D		No	ClinGen gnomAD
rs1363080688 CA359722254	19	I>S		No	ClinGen TOPMed
rs1391370884 CA359722256	20	S>T		No	ClinGen TOPMed gnomAD
rs1437513913 CA359722267	22	R>G		No	ClinGen gnomAD
rs867009376 CA118897108	22	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1024548693 CA118897113	24	H>Y		No	ClinGen TOPMed gnomAD
rs1378594507 CA359722294	26	V>M		No	ClinGen TOPMed
CA118897114 rs867445771	28	S>I		No	ClinGen Ensembl
CA3264717 rs375250474	28	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1390491895 CA359722325	31	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1278171392 CA359722334	32	E>*		No	ClinGen TOPMed
CA359722350 rs1337036256	33	Q>R		No	ClinGen gnomAD
rs200508708 CA3264721	34	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200508708 CA359722358	34	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA359722393 rs957328977	36	E>D		No	ClinGen TOPMed gnomAD
CA359722384 rs1303313349	36	E>G		No	ClinGen TOPMed gnomAD
rs1299341876 CA359722395	37	G>S		No	ClinGen gnomAD
rs780111690 CA359722418	38	W>*		No	ClinGen ExAC gnomAD
rs780111690 CA3264722	38	W>C		No	ClinGen ExAC gnomAD
CA118897185 rs1022340011	39	L>F		No	ClinGen TOPMed gnomAD
rs112026794 CA359722439	40	E>D		No	ClinGen ExAC TOPMed gnomAD
CA118897187 rs913510307	41	G>E		No	ClinGen Ensembl
CA359722443 rs1252995507	41	G>R		No	ClinGen gnomAD
CA3264726 rs761731382	42	V>F		No	ClinGen ExAC TOPMed gnomAD
CA118897210 rs1047428978	42	V>G		No	ClinGen Ensembl
rs761731382 CA3264727	42	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761731382 CA359722454	42	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1403269383 CA359722480	44	S>N		No	ClinGen TOPMed
rs760711172 CA3264729	45	R>S		No	ClinGen ExAC gnomAD
rs1580087474 CA359722513	47	D>N		No	ClinGen Ensembl
rs1195219099 CA359722526	48	R>H		No	ClinGen gnomAD
CA359722528 rs1195219099	48	R>P		No	ClinGen gnomAD
rs1168124250 CA359722613	53	A>V		No	ClinGen gnomAD
rs753000521 CA3264734	55	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1443798310 CA359722673	57	Q>R		No	ClinGen gnomAD
CA359722682 rs1442947971	58	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1193927533 CA359722696	59	I>F		No	ClinGen TOPMed
CA359722716 rs1326193788	60	R>H		No	ClinGen TOPMed gnomAD
rs1228693575 CA359722725	61	A>P		No	ClinGen gnomAD
rs374095539 CA3264736	62	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1213095113 CA359722744	62	P>R		No	ClinGen gnomAD
rs374095539 CA3264737	62	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA359722736 rs374095539	62	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1468805942 CA359722783	64	P>H		No	ClinGen gnomAD
CA3264739 rs779665216	65	G>S		No	ClinGen ExAC TOPMed gnomAD
CA359722816 rs1259645822	66	P>L		No	ClinGen gnomAD
CA359722875 rs1474036120	71	G>D		No	ClinGen gnomAD
CA359722914 rs1163536198	73	G>D		No	ClinGen gnomAD
rs866073066 CA118897314	73	G>S		No	ClinGen Ensembl
CA359722931 rs1158941610	74	A>S		No	ClinGen gnomAD
rs1282502129 CA359722964	76	A>V		No	ClinGen TOPMed
CA118897318 rs886389790	80	N>D		No	ClinGen TOPMed gnomAD
rs748848429 CA3264740	80	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1383104896 CA359723037	81	V>M		No	ClinGen gnomAD
rs1353752520 CA359723069	83	P>H		No	ClinGen gnomAD
CA3264741 rs768414360	84	G>A		No	ClinGen ExAC
CA359723072 CA359723073 rs1293926311	84	G>R		No	ClinGen gnomAD
CA359723089 rs1337025950	85	G>C		No	ClinGen gnomAD
rs1226722245 CA359723107	86	F>L		No	ClinGen TOPMed gnomAD
rs970271877 CA359723109	87	E>*		No	ClinGen TOPMed
rs1485533821 CA359723122 CA359723119	87	E>D		No	ClinGen gnomAD
rs778964180 CA3264742	87	E>G		No	ClinGen ExAC gnomAD
rs970271877 CA118897336	87	E>K		No	ClinGen TOPMed
CA118897347 rs940382211	88	P>A		No	ClinGen TOPMed gnomAD
rs747869803 CA3264743	88	P>H		No	ClinGen ExAC gnomAD
rs747869803 CA359723138	88	P>L		No	ClinGen ExAC gnomAD
CA359723129 rs940382211	88	P>S		No	ClinGen TOPMed gnomAD
CA359723126 rs940382211	88	P>T		No	ClinGen TOPMed gnomAD
rs773018918 CA3264745	89	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1418204180 CA359723148	89	L>P		No	ClinGen gnomAD
rs1418204180 CA359723145	89	L>Q		No	ClinGen gnomAD
rs1363678576 CA359723167	90	P>H		No	ClinGen gnomAD
rs1363678576 CA359723172	90	P>L		No	ClinGen gnomAD
rs771152867 CA3264747	90	P>S		No	ClinGen ExAC gnomAD
rs771152867 CA359723155	90	P>T		No	ClinGen ExAC gnomAD
rs1410917384 CA359723181	91	V>D		No	ClinGen TOPMed
rs1290931800 CA359723178	91	V>I		No	ClinGen gnomAD
rs1313711976 CA359723206	92	A>E		No	ClinGen gnomAD
CA359723201 rs765650574	92	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3264750 rs765650574	92	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1313711976 CA359723215	92	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3264752 rs763198102	93	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763198102 CA359723227	93	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3264751 rs753297212	93	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753297212 CA118897379	93	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1239689851 CA359723243	94	P>R		No	ClinGen gnomAD
CA3264754 rs751996568	94	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751996568 CA359723233	94	P>T		No	ClinGen ExAC TOPMed gnomAD
CA359723247 rs1262215068	95	A>T		No	ClinGen gnomAD
CA118897394 rs938392920	96	S>F		No	ClinGen TOPMed gnomAD
rs1486461331 CA359723298	98	K>R		No	ClinGen gnomAD
rs1056674123 CA118897401	100	P>A		No	ClinGen TOPMed
CA3264757 rs753270428	100	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1393877929 CA359723327	101	P>R		No	ClinGen gnomAD
rs538587425 CA3264759	101	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA118897420 rs760780345	102	D>E		No	ClinGen TOPMed gnomAD
CA359723331 rs1223403051	102	D>N		No	ClinGen gnomAD
rs748075878 CA3264760	103	A>T		No	ClinGen ExAC gnomAD
CA359723369 rs1487881822	105	Q>R		No	ClinGen TOPMed gnomAD
CA359723386 rs1322272612	107	L>V		No	ClinGen TOPMed
rs1297618397 CA359723392	108	L>M		No	ClinGen gnomAD
rs746811166 CA359723412	109	Q>H		No	ClinGen ExAC gnomAD
CA359723419 rs1311322735	110	P>S		No	ClinGen gnomAD
rs1183481972 CA359723442	111	Q>R		No	ClinGen TOPMed gnomAD
rs776971231 CA3264765	112	Q>R		No	ClinGen ExAC gnomAD
rs1280821085 CA359723462	113	A>V		No	ClinGen gnomAD
rs769958200 CA3264768	115	P>H		No	ClinGen ExAC TOPMed gnomAD
CA3264767 rs769958200	115	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1038526014 CA118897456	116	P>A		No	ClinGen TOPMed gnomAD
rs763471783 CA3264769	116	P>R		No	ClinGen ExAC gnomAD
CA3264771 rs546984700	118	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA118897466 rs930384803	119	F>V		No	ClinGen TOPMed
rs1408371034 CA359723543	120	Q>*		No	ClinGen gnomAD
rs1408371034 CA359723542	120	Q>E		No	ClinGen gnomAD
rs1169995160 CA359723550	120	Q>H		No	ClinGen gnomAD
CA359723545 rs1373468574	120	Q>P		No	ClinGen TOPMed
rs1355377115 CA359723561	121	P>L		No	ClinGen gnomAD
CA3264774 rs565288645	122	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3264773 rs766104081	122	P>S		No	ClinGen ExAC TOPMed gnomAD
CA359723575 rs1303798435	123	G>S		No	ClinGen gnomAD
rs754616175 CA3264775	123	G>V		No	ClinGen ExAC gnomAD
CA359723590 rs1365024594	125	G>R		No	ClinGen TOPMed
CA359723589 rs1365024594	125	G>S		No	ClinGen TOPMed
rs764752445 CA3264776	127	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3264778 rs758262936	128	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA3264779 rs777754401	129	G>S		No	ClinGen ExAC TOPMed gnomAD
CA359723675 rs1186347868	131	G>D		No	ClinGen gnomAD
CA359723682 rs1162797905	132	A>G		No	ClinGen gnomAD
CA3264781 rs536255107	132	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359723693 rs1462083646	133	L>P		No	ClinGen gnomAD
rs781240799 CA3264782	134	Q>R		No	ClinGen ExAC gnomAD
CA359723713 rs1351588163	135	P>R		No	ClinGen gnomAD
rs1160199213 CA359723709	135	P>S		No	ClinGen TOPMed
CA118897535 rs905766971	139	Q>R		No	ClinGen gnomAD
rs769932602 CA3264784	140	L>F		No	ClinGen ExAC gnomAD
rs143490328 CA3264786	141	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1333510773 CA359723811	142	G>D		No	ClinGen gnomAD
rs368288748 CA3264787	143	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA359723817 rs1292614786	143	G>C		No	ClinGen gnomAD
CA3264788 rs368288748	143	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs868332723 CA118897550	145	Q>P		No	ClinGen Ensembl
CA118897560 rs961904563	146	A>G		No	ClinGen TOPMed
CA3264789 rs762233225	146	A>P		No	ClinGen ExAC gnomAD
CA118897552 rs762233225	146	A>S		No	ClinGen ExAC gnomAD
CA3264790 rs767951209	147	S>I		No	ClinGen ExAC gnomAD
rs971709082 CA118897566	150	S>R		No	ClinGen TOPMed
rs1417493543 CA359723968	152	D>G		No	ClinGen gnomAD
CA359723964 rs1186057298	152	D>N		No	ClinGen TOPMed gnomAD
rs867748072 CA118897567	153	D>E		No	ClinGen Ensembl
rs537227406 CA3264794	155	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3264793 rs766578812	155	D>N		No	ClinGen ExAC TOPMed gnomAD
CA359724017 rs766578812	155	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1287337908 CA359724061	157	E>A		No	ClinGen TOPMed gnomAD
CA359724054 rs1317296225	157	E>K		No	ClinGen gnomAD
rs1345585224 CA359724095	159	D>Y		No	ClinGen gnomAD
rs763997720 CA3264798	160	D>G		No	ClinGen ExAC gnomAD
rs1358305114 CA359724142	161	S>T		No	ClinGen TOPMed
rs1176599260 CA359724169	163	T>A		No	ClinGen TOPMed
rs1415253372 CA359724187	164	V>L		No	ClinGen TOPMed
CA3264803 rs750201994	168	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1223727139 CA359724252	168	P>S		No	ClinGen gnomAD
rs1209228724 CA359724269	169	G>A		No	ClinGen TOPMed gnomAD
CA359724267 rs1209228724	169	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1356286974 CA359724261	169	G>S		No	ClinGen gnomAD
CA3264805 rs780211987	171	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780211987 CA359724301	171	L>R		No	ClinGen ExAC TOPMed gnomAD
CA359724319 rs1238349353	173	S>G		No	ClinGen gnomAD
CA359724334 rs1482569753	173	S>R		No	ClinGen TOPMed
CA359724338 rs1473989212	174	G>R		No	ClinGen TOPMed gnomAD
CA3264806 rs749370211	175	A>T		No	ClinGen ExAC gnomAD
rs768893036 CA3264807	175	A>V		No	ClinGen ExAC TOPMed gnomAD
CA359724387 rs1421259288	177	P>L		No	ClinGen TOPMed gnomAD
CA359724390 rs1171547544	178	D>N		No	ClinGen gnomAD
CA359724389 rs1171547544	178	D>Y		No	ClinGen gnomAD
CA359724399 rs1374431602	179	L>V		No	ClinGen gnomAD
CA359724420 rs748613247	180	D>E		No	ClinGen ExAC TOPMed gnomAD
rs955534594 CA359724413	180	D>N		No	ClinGen TOPMed
CA118897612 rs955534594	180	D>Y		No	ClinGen TOPMed
CA359724425 rs1333463999	181	G>S		No	ClinGen gnomAD
CA359724447 rs772468818	182	S>*		No	ClinGen ExAC TOPMed gnomAD
CA118897624 rs772468818	182	S>L		No	ClinGen ExAC TOPMed gnomAD
rs772468818 CA3264810	182	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1379827672 CA359724464	183	S>F		No	ClinGen TOPMed gnomAD
CA359724469 rs1232489939	184	S>L		No	ClinGen TOPMed gnomAD
CA3264811 rs773556595	185	A>V		No	ClinGen ExAC TOPMed gnomAD
rs769472742 CA3264813	186	G>C		No	ClinGen ExAC gnomAD
rs1397876496 CA359724486	186	G>D		No	ClinGen TOPMed
CA359724489 rs1397876496	186	G>V		No	ClinGen TOPMed
CA359724507 rs1437312991	189	A>T		No	ClinGen gnomAD
CA359724529 rs1182676595	190	A>V		No	ClinGen gnomAD
rs1441497177 CA359724532	191	G>S		No	ClinGen TOPMed gnomAD
rs1052473199 CA118897649	192	R>S		No	ClinGen TOPMed gnomAD
rs1394261218 CA359724573	194	R>C		No	ClinGen gnomAD
rs1466410130 CA359724577	194	R>H		No	ClinGen gnomAD
CA3264817 rs751093332	196	S>F		No	ClinGen ExAC gnomAD
rs374567519 CA3264819	197	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750232266 CA3264820	198	R>C		No	ClinGen ExAC gnomAD
CA3264821 rs542228619	198	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs964311384 CA118897667	199	S>C		No	ClinGen TOPMed gnomAD
CA359724620 rs1372169705	199	S>T		No	ClinGen gnomAD
CA3264822 rs780288239	200	D>Y		No	ClinGen ExAC gnomAD
rs1197558784 CA359724653	201	L>P		No	ClinGen TOPMed
CA3264825 rs779075343	202	S>F		No	ClinGen ExAC TOPMed gnomAD
CA359724707 rs1252369517	205	S>F		No	ClinGen gnomAD
rs920057148 CA118897684	206	R>C		No	ClinGen Ensembl
CA359724755 rs1321027142	208	G>C		No	ClinGen TOPMed
rs1474896151 CA359724756	208	G>D		No	ClinGen gnomAD
rs1474896151 CA359724758	208	G>V		No	ClinGen gnomAD
rs1580088891 CA359724777	210	V>A		No	ClinGen Ensembl
rs371334283 CA3264829	210	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371334283 CA359724772	210	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs777012786 CA359724818	212	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777012786 CA359724815	212	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3264833 rs777012786	212	P>R		No	ClinGen ExAC TOPMed gnomAD
CA359724811 rs1392136670	212	P>S		No	ClinGen TOPMed gnomAD
CA359724806 rs1392136670	212	P>T		No	ClinGen TOPMed gnomAD
rs1456495688 CA359724827	213	Q>*		No	ClinGen TOPMed
rs1228442388 CA359724884	216	P>R		No	ClinGen gnomAD
CA3264835 rs201253342	216	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761300441 CA3264837	219	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3264838 rs761300441	219	P>T		No	ClinGen ExAC TOPMed gnomAD
CA359724957 rs1561110962	221	S>N		No	ClinGen Ensembl
rs1488778817 CA359724989	223	A>V		No	ClinGen gnomAD
CA3264840 rs199620482	224	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1178487419 CA359725004	225	V>M		No	ClinGen TOPMed
CA118897767 rs905814644	227	R>C		No	ClinGen Ensembl
CA359725042 rs1193917904	227	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359725210 rs778312169	236	V>A		No	ClinGen ExAC gnomAD
rs778312169 CA3264848	236	V>G		No	ClinGen ExAC gnomAD
CA359725266 rs1308248292	239	G>C		No	ClinGen TOPMed
CA3264852 rs746238651	242	A>G		No	ClinGen ExAC gnomAD
CA359725350 rs1313571663	245	L>V		No	ClinGen gnomAD
rs1322184420 CA359725360	246	G>R		No	ClinGen gnomAD
CA3264856 rs771439275	247	E>G		No	ClinGen ExAC gnomAD
rs141661757 CA3264855	247	E>Q		No	ClinGen ESP ExAC gnomAD
rs772796832 CA3264857	248	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM593093 rs760469131 CA3264858 COSM593094	248	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1186518094 CA359725437	251	F>V		No	ClinGen gnomAD
CA359725456 rs1256254995	252	V>L		No	ClinGen gnomAD
CA359725511 rs749075689	254	D>E		No	ClinGen ExAC TOPMed gnomAD
rs368335835 CA3264861	255	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368335835 CA359725524	255	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA359725650 rs1420639730	260	V>M		No	ClinGen TOPMed
CA359725670 rs1580089211	261	V>G		No	ClinGen Ensembl
CA3264864 rs758678192	261	V>M		No	ClinGen ExAC gnomAD
CA3264865 rs764031987	262	L>M		No	ClinGen ExAC TOPMed gnomAD
rs565653634 CA3264866	263	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA118897914 rs974255513	265	Y>C		No	ClinGen TOPMed
CA3264868 rs781715622	266	G>D		No	ClinGen ExAC TOPMed gnomAD
CA359725762 rs1285277509	266	G>S		No	ClinGen TOPMed
CA359725777 rs781715622	266	G>V		No	ClinGen ExAC TOPMed gnomAD
CA359725783 rs1209684573	267	P>H		No	ClinGen gnomAD
rs756523700 CA359725827	268	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3264870 rs756523700	268	E>G		No	ClinGen ExAC TOPMed gnomAD
CA359725813 rs1237329672	268	E>K		No	ClinGen TOPMed gnomAD
rs778509796 CA3264871	271	E>G		No	ClinGen ExAC gnomAD
rs747702403 CA3264872	272	N>D		No	ClinGen ExAC gnomAD
CA3264873 rs771766727	272	N>K		No	ClinGen ExAC
rs746594058 CA3264875	273	P>H		No	ClinGen ExAC gnomAD
rs746594058 CA359725955	273	P>L		No	ClinGen ExAC gnomAD
rs772527641 CA3264874	273	P>S		No	ClinGen ExAC gnomAD
CA118897948 rs956127417	274	Y>H		No	ClinGen TOPMed gnomAD
CA359725972 rs956127417	274	Y>N		No	ClinGen TOPMed gnomAD
rs1580089336 CA359725984	274	Y>S		No	ClinGen Ensembl
rs1454155258 CA359726017	275	P>L		No	ClinGen gnomAD
CA3264877 rs374497194	276	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs867519520 CA118897950	277	Q>P		No	ClinGen Ensembl
CA359726130 rs1460512006	279	T>A		No	ClinGen TOPMed gnomAD
rs951519744 CA118897955	280	I>V		No	ClinGen Ensembl
COSM1642756 rs548196245 CA3264881 COSM1642757	281	D>N	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA3264884 rs751589442	284	T>S		No	ClinGen ExAC gnomAD
CA3264885 rs761941472	285	K>R		No	ClinGen ExAC gnomAD
CA3264888 rs756632021	287	T>S		No	ClinGen ExAC gnomAD
rs1465229274 CA359726337	287	T>S		No	ClinGen TOPMed
rs1429600788 CA359726391	291	G>S		No	ClinGen TOPMed
rs61999266 CA359726448	293	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754231394 CA3264891	296	I>N		No	ClinGen ExAC
rs1261872737 CA359726488	296	I>V		No	ClinGen TOPMed
CA359726556 rs1192190201	299	K>R		No	ClinGen TOPMed gnomAD
rs1169751081 CA359726569	300	L>P		No	ClinGen gnomAD
rs777538472 CA118898008	300	L>V		No	ClinGen ExAC TOPMed gnomAD
CA118898040 rs889204069	301	V>G		No	ClinGen TOPMed
rs770604470 CA3264895	301	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780880095 CA3264896	302	P>A		No	ClinGen ExAC gnomAD
CA359726600 rs1435428634	303	T>A		No	ClinGen TOPMed gnomAD
rs1006261399 CA118898052	304	H>L		No	ClinGen TOPMed gnomAD
CA359726629 rs1369199218	305	T>A		No	ClinGen gnomAD
COSM1068741 CA3264899 COSM1068743 rs148273455	305	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3264900 rs775088034	306	Q>R		No	ClinGen ExAC gnomAD
rs1219982888 CA359726661	307	V>L		No	ClinGen gnomAD
rs762861892 CA3264901	308	P>A		No	ClinGen ExAC TOPMed gnomAD
CA118898080 rs141392594	308	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3264903 rs141392594	308	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762861892 CA3264902	308	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3264905 rs559194532	310	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1422275602 CA359726723	311	R>Q		No	ClinGen TOPMed
CA359726800 rs1168061518	316	F>Y		No	ClinGen TOPMed
CA3264907 rs374767533	317	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA359726879 rs1186778819	320	Y>*		No	ClinGen TOPMed
CA359726860 rs1162901508	320	Y>D		No	ClinGen gnomAD
CA359726854 rs1162901508	320	Y>H		No	ClinGen gnomAD
CA359726883 rs1415526498	321	A>T		No	ClinGen gnomAD
CA359726889 rs1404698944	321	A>V		No	ClinGen gnomAD
rs755413202 CA3264910	324	A>V		No	ClinGen ExAC gnomAD
CA359726921 rs1580089683	325	E>G		No	ClinGen Ensembl
rs1580089701 CA359726947	327	F>V		No	ClinGen Ensembl
CA359726979 rs1257497501	329	V>F		No	ClinGen TOPMed
CA359726975 rs1257497501	329	V>I		No	ClinGen TOPMed
CA3264914 rs780781962	333	P>S		No	ClinGen ExAC gnomAD
rs749002872 CA3264918	343	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1444122384 CA359727135	345	E>Q		No	ClinGen TOPMed
rs765535897 CA118898171	349	I>F		No	ClinGen Ensembl
rs370777622 CA118898174	350	S>C		No	ClinGen ESP TOPMed
rs1473199958 CA359727215	352	R>G		No	ClinGen gnomAD
rs1182370706 CA359727240	354	K>N		No	ClinGen gnomAD
CA359727270 rs1580089833	357	I>S		No	ClinGen Ensembl
rs1054351564 CA118898186	363	M>T		No	ClinGen Ensembl
rs1415926919 CA359727358	364	A>T		No	ClinGen gnomAD
rs1157853184 CA359727376	365	S>I		No	ClinGen gnomAD
CA3264922 COSM1437820 rs772299231 COSM1437821	373	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3264923 rs773270257	374	V>A		No	ClinGen ExAC TOPMed gnomAD
CA359727475 rs1339357433	374	V>I		No	ClinGen gnomAD
CA359727497 rs1371835473	376	Q>*		No	ClinGen gnomAD
CA3264925 rs766767247	379	L>M		No	ClinGen ExAC gnomAD
CA3264927 COSM1266394 rs759984674 COSM1266395	380	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs150828236 CA3264926	380	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA359727556 rs1205512653	381	C>Y		No	ClinGen TOPMed
CA118898219 rs1041557054	382	P>S		No	ClinGen gnomAD
CA359727573 rs1239084559	383	S>R		No	ClinGen gnomAD
CA3264930 rs139290537	385	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs988301482 CA118898229	386	D>H		No	ClinGen TOPMed
rs767335549 CA3264932	389	A>D		No	ClinGen ExAC gnomAD
rs767335549 CA3264931	389	A>G		No	ClinGen ExAC gnomAD
rs1380704079 CA359727649	389	A>P		No	ClinGen gnomAD
CA359727705 rs1294367406	397	A>T		No	ClinGen TOPMed
CA3264938 rs747998642	401	E>K		No	ClinGen ExAC gnomAD
CA118898268 rs200786852	401	E>V		No	ClinGen Ensembl
CA3264939 rs772280770	402	M>I		No	ClinGen ExAC gnomAD
CA118898274 rs986577794	403	V>L		No	ClinGen TOPMed
CA359727755 rs1580090044	404	G>S		No	ClinGen Ensembl
rs199557419 CA3264940	405	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs199557419 CA3264941	405	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776606069 CA3264943	410	T>N		No	ClinGen ExAC gnomAD
CA118898302 rs988750079	410	T>P		No	ClinGen Ensembl
CA359727818 rs1425217126	411	L>F		No	ClinGen TOPMed
CA359727831 rs1220980444	412	S>G		No	ClinGen gnomAD
CA3264944 rs760022478	412	S>T		No	ClinGen ExAC gnomAD
rs772068237 CA118898310	413	T>M		No	ClinGen TOPMed
rs1027222000 CA359727853	414	P>A		No	ClinGen TOPMed
rs775983988 CA3264947	414	P>L		No	ClinGen ExAC gnomAD
CA118898324 rs1027222000	414	P>S		No	ClinGen TOPMed
CA118898336 rs868484252	415	P>H		No	ClinGen gnomAD
rs763477325 CA3264948	415	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3264949 rs767245658	416	A>V		No	ClinGen ExAC gnomAD
rs376291219 CA3264951	417	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA359727885 rs1173759546	418	A>T		No	ClinGen gnomAD
CA3264950 rs746143131	420	D>G		No	ClinGen ExAC
rs1561111844 CA359727910	420	D>V		No	ClinGen Ensembl
rs374196636 CA3264953	422	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs753288583 CA3264954	423	E>A		No	ClinGen ExAC gnomAD
CA359728546 rs1198842846	424	V>G		No	ClinGen TOPMed
rs929145638 CA118898366	424	V>M		No	ClinGen TOPMed
rs778891755 CA3264956	427	K>R		No	ClinGen ExAC gnomAD
CA359728592 rs1323349285	428	I>V		No	ClinGen gnomAD
CA359728613 CA359728611 rs1438899018	429	D>E		No	ClinGen TOPMed gnomAD
rs758240285 CA3264958	430	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3264959 rs777568307	431	F>L		No	ClinGen ExAC gnomAD
CA359728644 rs1258572136	432	K>R		No	ClinGen TOPMed gnomAD
rs747215822 CA3264960	433	C>S		No	ClinGen ExAC gnomAD
CA3264963 rs745992116	436	K>R		No	ClinGen ExAC gnomAD
CA359728775 rs1434866835	442	A>T		No	ClinGen gnomAD
CA3264969 rs760304544	446	N>D		No	ClinGen ExAC gnomAD
CA3264970 rs766009858	446	N>S		No	ClinGen ExAC gnomAD
CA3264972 rs759011378	447	H>N		No	ClinGen ExAC gnomAD
rs765139851 CA3264973	447	H>Q		No	ClinGen ExAC gnomAD
rs759011378 CA118898436	447	H>Y		No	ClinGen ExAC gnomAD
rs1296574274 CA359728838	448	T>A		No	ClinGen gnomAD
rs752584405 CA3264974	448	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369102206 CA118898459	450	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA359728860 rs1280212925	450	N>S		No	ClinGen gnomAD
CA3264976 rs777478470	451	E>G		No	ClinGen ExAC gnomAD
CA359728892 rs1264836696	453	A>T		No	ClinGen gnomAD
CA359728900 rs1356782237	453	A>V		No	ClinGen gnomAD
CA3264977 rs751325405	454	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3697261 COSM3697260 rs766025431 CA118898485	454	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA359728916 rs1487759734	455	K>E		No	ClinGen gnomAD
rs1330195899 CA359728926	456	Q>*		No	ClinGen TOPMed gnomAD
CA359728925 rs1330195899	456	Q>E		No	ClinGen TOPMed gnomAD
rs757487264 CA3264978	456	Q>R		No	ClinGen ExAC gnomAD
rs1264729931 CA359728943	457	V>L		No	ClinGen TOPMed gnomAD
rs1421592383 CA359728961	458	T>I		No	ClinGen gnomAD
rs745927905 CA3264980	459	G>S		No	ClinGen ExAC gnomAD
CA359729021 rs1580090465	464	Y>D		No	ClinGen Ensembl
rs550269444 CA118898495	465	Q>H		No	ClinGen TOPMed gnomAD
CA359729062 rs1580090479	467	V>G		No	ClinGen Ensembl
CA359729069 rs1480784257	468	G>S		No	ClinGen TOPMed
RCV000964123 rs190203684 CA3264983	470	S>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3264986 rs774715540	471	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1311904479 CA359729120	472	R>C		No	ClinGen gnomAD
CA359729124 rs1341008247	472	R>H		No	ClinGen gnomAD
CA359729129 rs1239499587	473	G>S		No	ClinGen Ensembl
rs1561112082 CA359729138	473	G>V		No	ClinGen Ensembl
rs759256710 CA3264990	476	Q>R		No	ClinGen ExAC gnomAD
CA118898544 rs1041609334	477	A>S		No	ClinGen Ensembl
CA359729188 rs1352462356	477	A>V		No	ClinGen TOPMed gnomAD
rs764688470 CA3264991	479	E>G		No	ClinGen ExAC gnomAD
CA359729237 rs1199405577	481	D>H		No	ClinGen gnomAD
rs763326737 CA118898562	483	Q>E		No	ClinGen TOPMed gnomAD
COSM4141996 rs1177111177 COSM4141995 CA359729304	485	F>L	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3264995 rs751365648	488	G>S		No	ClinGen ExAC gnomAD
rs1561112154 CA359729341	490	N>Y		No	ClinGen Ensembl
rs1402773980 CA359729357	492	A>S		No	ClinGen gnomAD
CA118898585 rs769402714	493	I>V		No	ClinGen gnomAD
CA118898600 rs752045486	496	T>I		No	ClinGen Ensembl
rs1240684048 CA359729403	498	D>G		No	ClinGen gnomAD
rs1240684048 CA359729405	498	D>V		No	ClinGen gnomAD
rs376723402 CA3265002	499	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA359729423 rs1310084422	500	Y>C		No	ClinGen gnomAD
rs899901213 CA359729446	501	D>E		No	ClinGen TOPMed gnomAD
CA3265003 rs779332439	502	A>D		No	ClinGen ExAC gnomAD
CA359729449 rs142046953	502	A>S		No	ClinGen ESP TOPMed gnomAD
rs142046953 CA118898615	502	A>T		No	ClinGen ESP TOPMed gnomAD
rs1197271173 CA359729460	503	I>T		No	ClinGen gnomAD
rs757834095 CA3265004	505	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1458485287 CA359729488	506	L>F		No	ClinGen gnomAD
rs1423244826 CA359729510	508	A>S		No	ClinGen gnomAD
CA3265007 rs745459385	513	Q>R		No	ClinGen ExAC gnomAD
rs774968424 CA3265010	516	D>Y		No	ClinGen ExAC gnomAD
rs1447166642 CA359729605	517	P>H		No	ClinGen gnomAD
CA359729609 rs1048379768	518	V>I		No	ClinGen TOPMed gnomAD
CA118898643 rs1048379768	518	V>L		No	ClinGen TOPMed gnomAD
rs1428408506 CA359729640	520	D>V		No	ClinGen TOPMed
CA3265012 rs371638046	523	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761831451 CA3265014	525	Y>H		No	ClinGen ExAC gnomAD
rs767173190 CA3265015	525	Y>S		No	ClinGen ExAC gnomAD
rs1242920966 CA359729685	526	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA118898654 rs374514427	527	G>R		No	ClinGen ESP
rs756342513 CA3265017	529	L>Q		No	ClinGen ExAC gnomAD
rs1472907497 CA359729733	530	A>V		No	ClinGen gnomAD
rs753941307 CA3265019	532	F>V		No	ClinGen ExAC TOPMed gnomAD
CA359729765 rs1184067569	533	P>L		No	ClinGen gnomAD
rs1193052566 CA359729786	535	I>V		No	ClinGen TOPMed gnomAD
rs779074773 CA3265021	536	I>T		No	ClinGen ExAC gnomAD
rs372239672 CA3265022	537	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172510265 CA359729814	537	H>Q		No	ClinGen gnomAD
rs887394879 CA118898685	542	K>R		No	ClinGen Ensembl
rs1397517105 CA359729898	544	W>*		No	ClinGen gnomAD
rs199538676 CA3265025	544	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200821247 CA3265024	544	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA118898692 rs751092684	545	P>L		No	ClinGen gnomAD
rs1226546516 CA359729919	546	L>*		No	ClinGen TOPMed
CA3265026 rs769431195	547	E>K		No	ClinGen ExAC TOPMed gnomAD
CA359729924 rs769431195	547	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA359729936 rs1216807523	548	Q>*		No	ClinGen gnomAD
CA3265028 rs748773217	550	I>M		No	ClinGen ExAC gnomAD
CA359729962 rs1315542169	551	W>C		No	ClinGen TOPMed
CA3265030 rs768001286 CA3265029	551	W>R		No	ClinGen ExAC gnomAD
CA3265031 rs761586735	553	V>A		No	ClinGen ExAC gnomAD
rs1294146543 CA359729980	554	L>S		No	ClinGen gnomAD
CA359729986 rs1487450920	555	C>G		No	ClinGen gnomAD
rs1192985830 CA359729992	556	R>G		No	ClinGen gnomAD
CA3265032 rs767499547	556	R>K		No	ClinGen ExAC
rs1003050140 CA118898731	558	K>R		No	ClinGen Ensembl
rs1478868527 CA359730013	559	G>E		No	ClinGen gnomAD
rs1188200951 CA359730019	560	A>E		No	ClinGen TOPMed gnomAD
rs1188200951 CA359730021	560	A>V		No	ClinGen TOPMed gnomAD
rs760591201 CA3265036	561	T>I		No	ClinGen ExAC gnomAD
rs1355219019 CA359730039	563	T>I		No	ClinGen TOPMed
CA359730040 rs1403130771	564	A>T		No	ClinGen gnomAD
CA3265039 rs755262355	566	P>L		No	ClinGen ExAC gnomAD
rs754066996 CA3265038	566	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3265042 rs765164796	571	E>*		No	ClinGen ExAC gnomAD
VAR_052480 CA3265043 rs2548612	571	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3265040 rs765164796	571	E>K		No	ClinGen ExAC gnomAD
rs765164796 CA3265041	571	E>Q		No	ClinGen ExAC gnomAD
CA359730086 rs1184664102	572	S>A		No	ClinGen TOPMed
CA3265044 rs751889217	572	S>L		No	ClinGen ExAC TOPMed gnomAD
rs757667838 CA3265045	573	Y>H		No	ClinGen ExAC gnomAD
CA359730099 rs1317641666	574	S>P		No	ClinGen gnomAD
CA3265047 rs748898175	575	T>A		No	ClinGen ExAC gnomAD
rs778226020 CA3265050	577	E>G		No	ClinGen ExAC gnomAD
CA359730134 rs1044316604	579	A>G		No	ClinGen TOPMed gnomAD
rs1044316604 CA118898841	579	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3265051 rs367802950	580	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA359730141 rs1183917896	580	S>R		No	ClinGen gnomAD
rs114605253 CA3265052	581	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1580091218 CA359730150	582	D>Y		No	ClinGen Ensembl
rs760714721 CA3265054	583	V>A		No	ClinGen ExAC gnomAD
rs773334865 CA3265053	583	V>M		No	ClinGen ExAC gnomAD
rs759621029 CA3265057	585	A>D		No	ClinGen ExAC gnomAD
CA359730168 rs575870397	585	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3265056 rs575870397	585	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1449374837 CA359730208	591	E>*		No	ClinGen gnomAD
VAR_052481 rs13162502 CA3265060	593	K>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA359730238 rs1310191349	595	D>Y		No	ClinGen gnomAD
CA118898865 rs754703699	599	G>D		No	ClinGen gnomAD
CA118898871 rs943913214	600	S>G		No	ClinGen Ensembl
rs752011336 CA3265062	600	S>R		No	ClinGen ExAC TOPMed gnomAD
CA359730272 rs1456833827	600	S>T		No	ClinGen TOPMed
CA118898890 rs778679293	603	L>F		No	ClinGen Ensembl
CA3265065 rs750798298	604	E>*		No	ClinGen ExAC gnomAD
CA3265066 rs747998734	605	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA359730310 rs1177784684	606	L>V		No	ClinGen gnomAD
CA3265067 rs778690497	608	L>S		No	ClinGen ExAC gnomAD
CA118898923 rs931389786	609	G>R		No	ClinGen Ensembl
rs1423824469 CA359730335	610	N>S		No	ClinGen TOPMed gnomAD
rs771566499 CA3265069	612	Y>N		No	ClinGen ExAC gnomAD
rs1580091408 CA359730357	613	S>Y		No	ClinGen Ensembl
CA359730373 rs1398757332	615	S>L		No	ClinGen gnomAD
CA359730371 rs1398757332	615	S>W		No	ClinGen gnomAD
CA359730377 rs1354554453	616	K>T		No	ClinGen TOPMed gnomAD
rs771976401 CA3265071	617	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3265072 rs201770335	618	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359730389 rs1332501037	618	Q>K		No	ClinGen gnomAD
rs1224670876 CA359730403	620	V>I		No	ClinGen TOPMed
CA118898999 rs1048389848	621	P>L		No	ClinGen TOPMed gnomAD
CA118899019 rs1017826751	623	M>R		No	ClinGen TOPMed
CA3265075 rs138626050	624	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264861331 CA359730494	627	S>*		No	ClinGen gnomAD
CA3265078 rs769572647	628	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3265077 rs775829881	628	F>L		No	ClinGen ExAC gnomAD
CA3265079 rs779733826	629	F>K		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q96RF0

5 regional properties for Q96RF0

Type	Name	Position	InterPro Accession
domain	SH3 domain	1 - 61	IPR001452
domain	Phox homology	273 - 386	IPR001683
domain	Sorting nexin protein, WASP-binding domain	386 - 541	IPR019497
domain	Sorting nexin-18, SH3 domain	4 - 58	IPR035557
domain	SNX18, PX domain	276 - 403	IPR035703

Functions

		Description
EC Number
Subcellular Localization	Endomembrane system ; Peripheral membrane protein ; Cytoplasmic side Endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Recycling endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasmic vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side	Localized at sites of endocytosis at the cell membrane (PubMed:18411244) Detected on newly formed macropinosomes (PubMed:21048941) Partially colocalized with clathrin and dynamin at the cell membrane (PubMed:20427313) Transiently recruited to clathrin-coated pits at a late stage of clathrin-coated vesicle formation (PubMed:18411244)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.

2 GO annotations of molecular function

Name	Definition
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.

8 GO annotations of biological process

Name	Definition
cleavage furrow formation	Generation of the cleavage furrow, a shallow groove in the cell surface near the old metaphase plate that marks the site of cytokinesis. This process includes the recruitment and localized activation of signals such as RhoA at the site of the future furrow to ensure that furrowing initiates at the correct site in the cell.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
endosomal transport	The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane.
mitotic cytokinesis	A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
positive regulation of autophagosome assembly	Any process that activates or increases the frequency, rate or extent of autophagic vacuole assembly.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y5X1	SNX9	Sorting nexin-9	Homo sapiens (Human)	PR
Q8WV41	SNX33	Sorting nexin-33	Homo sapiens (Human)	PR
Q91VH2	Snx9	Sorting nexin-9	Mus musculus (Mouse)	PR
Q91ZR2	Snx18	Sorting nexin-18	Mus musculus (Mouse)	PR
Q28GP7	snx33	Sorting nexin-33	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MALRARALYD	FRSENPGEIS	LREHEVLSLC	SEQDIEGWLE	GVNSRGDRGL	FPASYVQVIR
70	80	90	100	110	120
APEPGPAGDG	GPGAPARYAN	VPPGGFEPLP	VAPPASFKPP	PDAFQALLQP	QQAPPPSTFQ
130	140	150	160	170	180
PPGAGFPYGG	GALQPSPQQL	YGGYQASQGS	DDDWDDEWDD	SSTVADEPGA	LGSGAYPDLD
190	200	210	220	230	240
GSSSAGVGAA	GRYRLSTRSD	LSLGSRGGSV	PPQHHPSGPK	SSATVSRNLN	RFSTFVKSGG
250	260	270	280	290	300
EAFVLGEASG	FVKDGDKLCV	VLGPYGPEWQ	ENPYPFQCTI	DDPTKQTKFK	GMKSYISYKL
310	320	330	340	350	360
VPTHTQVPVH	RRYKHFDWLY	ARLAEKFPVI	SVPHLPEKQA	TGRFEEDFIS	KRRKGLIWWM
370	380	390	400	410	420
NHMASHPVLA	QCDVFQHFLT	CPSSTDEKAW	KQGKRKAEKD	EMVGANFFLT	LSTPPAAALD
430	440	450	460	470	480
LQEVESKIDG	FKCFTKKMDD	SALQLNHTAN	EFARKQVTGF	KKEYQKVGQS	FRGLSQAFEL
490	500	510	520	530	540
DQQAFSVGLN	QAIAFTGDAY	DAIGELFAEQ	PRQDLDPVMD	LLALYQGHLA	NFPDIIHVQK
550	560	570	580	590	600
GKAWPLEQVI	WSVLCRLKGA	TLTAVPLWVS	ESYSTGEEAS	RDVDAWVFSL	ECKLDCSTGS
610	620
FLLEYLALGN	EYSFSKVQRV	PLMTVLSF