AiPD: Autoinhibited Protein Database

Q8N6S5

Gene name	ARL6IP6 (PFAAP1)
Protein name	ADP-ribosylation factor-like protein 6-interacting protein 6
Names	ARL-6-interacting protein 6, Aip-6, Phosphonoformate immuno-associated protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:151188
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-110 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-110 (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 Q8N6S5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N6S5-F1	Predicted				AlphaFoldDB

267 variants for Q8N6S5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1915097 rs761845425	2	S>L		No	ClinGen ExAC TOPMed gnomAD
CA348838276 rs761845425	2	S>W		No	ClinGen ExAC TOPMed gnomAD
CA1915098 rs765402663	3	F>L		No	ClinGen ExAC TOPMed gnomAD
CA348838321 rs1474585859	4	A>V		No	ClinGen gnomAD
rs1035881997 CA58578683	6	S>T		No	ClinGen TOPMed gnomAD
rs1367203314 CA348838370	7	G>E		No	ClinGen gnomAD
CA1915100 rs549156054	7	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	7	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348838369 rs549156054	7	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755993868 CA348838394	9	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755993868 CA1915103	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs528146885 CA1915102	9	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs370204153 CA348838397	10	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370204153 CA1915106	10	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753584168 CA1915105	10	S>T		No	ClinGen ExAC gnomAD
CA1915107 rs778543539	11	A>G		No	ClinGen ExAC gnomAD
CA348838399 rs1414214559	11	A>T		No	ClinGen gnomAD
CA348838403 rs778543539	11	A>V		No	ClinGen ExAC gnomAD
CA58578763 rs374960290	13	R>W		No	ClinGen ESP gnomAD
rs772565683 CA1915109	14	R>H		No	ClinGen ExAC gnomAD
CA1915111 rs747327916	15	R>C		No	ClinGen ExAC gnomAD
CA1915112 rs367983910	15	R>L		No	ClinGen ESP ExAC gnomAD
rs776807699 CA1915113	16	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1915114 rs762148106	16	G>V		No	ClinGen ExAC gnomAD
CA1915115 rs551102385	17	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348838453 rs1418230792	19	T>I		No	ClinGen TOPMed gnomAD
rs1573996395 CA348838447	19	T>P		No	ClinGen Ensembl
rs767438440 CA1915118	20	P>L		No	ClinGen ExAC gnomAD
rs767438440 CA1915119	20	P>R		No	ClinGen ExAC gnomAD
rs1422554601 CA348838472	21	G>D		No	ClinGen TOPMed
rs985646956 CA58578823	21	G>S		No	ClinGen TOPMed gnomAD
CA348838488 rs571191360	22	P>H		No	ClinGen 1000Genomes gnomAD
CA58578836 rs571191360	22	P>L		No	ClinGen 1000Genomes gnomAD
CA348838507 rs1306189801	24	A>P		No	ClinGen gnomAD
rs764804360 CA1915124	25	R>P		No	ClinGen ExAC
CA1915123 rs551332888	25	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749893071 CA1915125	27	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1280633981 CA348838548	27	S>P		No	ClinGen gnomAD
CA58578862 rs924185588	28	Y>C		No	ClinGen TOPMed
CA348838561 rs1207429185	28	Y>H		No	ClinGen TOPMed gnomAD
CA1915126 rs757871461	29	S>F		No	ClinGen ExAC TOPMed gnomAD
CA348838581 rs1252484899	29	S>T		No	ClinGen gnomAD
rs780503309 CA348838615	30	S>C		No	ClinGen ExAC TOPMed gnomAD
rs780503309 CA1915127	30	S>F		No	ClinGen ExAC TOPMed gnomAD
rs747559308 CA1915128	31	F>I		No	ClinGen ExAC TOPMed gnomAD
rs747559308 CA348838621	31	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1915129 rs755318004	32	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348838655 rs1338061879	33	Q>E		No	ClinGen TOPMed
rs912648826 CA348839472 CA58578913	33	Q>H		No	ClinGen TOPMed gnomAD
CA348838660 rs1174220842	33	Q>R		No	ClinGen gnomAD
rs781600555 CA1915131	34	G>E		No	ClinGen ExAC gnomAD
CA348839473 rs1462545465	34	G>R		No	ClinGen gnomAD
rs1362969761 CA348839478	35	D>N		No	ClinGen TOPMed
rs748463315 CA1915133	36	S>N		No	ClinGen ExAC gnomAD
CA1915135 rs536895833	37	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1217185074 CA348839518	40	G>D		No	ClinGen gnomAD
CA348839516 rs1456510592	40	G>R		No	ClinGen TOPMed
rs1166199942 CA348839529	42	V>I		No	ClinGen TOPMed
rs566783573 CA58578973	43	D>Y		No	ClinGen Ensembl
CA348839550 rs1328415743	45	E>K		No	ClinGen gnomAD
CA1915137 CA348839564 rs771174515	46	E>D		No	ClinGen ExAC gnomAD
TCGA novel	46	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348839558 rs1203161374	46	E>K		No	ClinGen TOPMed gnomAD
CA58578988 rs200104264	47	G>R		No	ClinGen TOPMed gnomAD
CA348839568 rs1215951616	47	G>V		No	ClinGen gnomAD
TCGA novel	48	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348839574 rs1254096547	48	C>S		No	ClinGen gnomAD
CA348839588 rs1559216120	50	Q>*		No	ClinGen Ensembl
TCGA novel	50	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348839591 rs1189746706	50	Q>L		No	ClinGen TOPMed gnomAD
rs1189746706 CA348839590	50	Q>R		No	ClinGen TOPMed gnomAD
CA348839595 rs1428712469	51	V>L		No	ClinGen TOPMed
rs755803658 CA1915139	52	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1469469399 CA348839607	53	R>C		No	ClinGen TOPMed
rs776502582 CA348839622	55	L>P		No	ClinGen ExAC TOPMed gnomAD
rs776502582 CA1915141	55	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1169993815 CA348839620	55	L>V		No	ClinGen TOPMed gnomAD
CA1915142 rs761529448	56	R>G		No	ClinGen ExAC TOPMed gnomAD
rs116506483 CA1915143 RCV000966142	56	R>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1433998438 CA348839626	57	A>T		No	ClinGen gnomAD
CA58579056 rs919813646	58	E>D		No	ClinGen TOPMed gnomAD
CA348839632 rs1280735400	58	E>K		No	ClinGen gnomAD
CA1915145 rs757898288	59	F>C		No	ClinGen ExAC gnomAD
CA348839650 rs1213492426	60	S>L		No	ClinGen TOPMed gnomAD
CA348839647 rs1573997697	60	S>P		No	ClinGen Ensembl
CA348839649 rs1213492426	60	S>W		No	ClinGen TOPMed gnomAD
rs79229623 CA1915146	61	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368661783 CA1915147	63	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368661783 CA1915148	63	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA16042269 rs867616255 RCV000412527	64	W>*		No	ClinGen ClinVar dbSNP gnomAD
CA348839671 rs1235742383	64	W>S		No	ClinGen gnomAD
rs1559216377 CA348839680	65	S>L		No	ClinGen Ensembl
CA1915151 rs756464121	66	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1244076185 CA348839684	66	E>G		No	ClinGen gnomAD
rs748493173 CA1915150	66	E>Q		No	ClinGen ExAC gnomAD
CA1915153 rs199999697	67	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1915154 rs199999697	67	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559216447 CA348839687	67	P>S		No	ClinGen Ensembl
CA348839693 rs1376708138	68	R>G		No	ClinGen TOPMed
rs1476219593 CA348839707	68	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1915156 rs558760088	69	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768658181 CA1915157	70	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776457567 CA348839752	70	R>H		No	ClinGen ExAC gnomAD
rs776457567 COSM441265 CA1915158	70	R>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1915160 rs369281391	71	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs761631430 CA348839761	71	S>P		No	ClinGen ExAC TOPMed gnomAD
CA1915159 rs761631430	71	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1915161 rs369281391	71	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1573998159 CA348839794	72	V>G		No	ClinGen Ensembl
CA1915162 rs762656287	72	V>L		No	ClinGen ExAC gnomAD
rs372567111 CA1915163	73	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA348839824 rs1232307722	74	P>R		No	ClinGen TOPMed
CA1915164 rs139323229	75	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1915166 rs575269466	76	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317892703 CA348839859	76	D>G		No	ClinGen gnomAD
CA348839873 CA348839876 rs1331540645	77	G>R		No	ClinGen TOPMed
rs756811007 CA1915167	79	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1915168 rs756811007	79	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1284118575 CA348839910	79	G>W		No	ClinGen gnomAD
CA58579248 rs544189110	80	S>L		No	ClinGen 1000Genomes gnomAD
CA348839944 rs1188690020	81	P>L		No	ClinGen gnomAD
CA1915170 rs754086442	82	V>I		No	ClinGen ExAC TOPMed gnomAD
CA348839952 rs754086442	82	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1915173 rs745895690	83	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1915172 rs144942827	83	L>V		No	ClinGen ESP ExAC gnomAD
rs1434819036 CA348839995	84	P>L		No	ClinGen TOPMed gnomAD
CA1915174 rs772311392	84	P>S		No	ClinGen ExAC TOPMed gnomAD
CA348840013 rs563289482	85	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs781156981 CA58579282	85	D>G		No	ClinGen ExAC TOPMed gnomAD
CA348839999 rs1332863409	85	D>N		No	ClinGen gnomAD
rs781156981 CA1915176	85	D>V		No	ClinGen ExAC TOPMed gnomAD
CA348840021 rs1281767915	86	K>*		No	ClinGen TOPMed gnomAD
CA348840026 rs1281767915	86	K>E		No	ClinGen TOPMed gnomAD
rs769621927 CA1915178	87	R>C		No	ClinGen ExAC gnomAD
rs772811993 CA1915179	88	N>D		No	ClinGen ExAC TOPMed gnomAD
rs762746406 CA1915180	88	N>T		No	ClinGen ExAC gnomAD
TCGA novel	89	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348840098 rs1211692315	89	G>V		No	ClinGen gnomAD
rs1348543558 CA348840136	91	F>L		No	ClinGen TOPMed
CA1915184 rs573551351	92	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA348840148 rs759014318	92	P>S		No	ClinGen ExAC gnomAD
CA1915183 rs759014318	92	P>T		No	ClinGen ExAC gnomAD
rs753233976 CA1915185	93	A>S		No	ClinGen ExAC gnomAD
rs761153270 CA1915186	93	A>V		No	ClinGen ExAC gnomAD
rs764667692 CA1915187	94	A>V		No	ClinGen ExAC gnomAD
CA1915190 rs779316296	96	G>C		No	ClinGen ExAC gnomAD
CA1915191 rs750630515	96	G>D		No	ClinGen ExAC gnomAD
rs758570003 CA1915192	99	A>T		No	ClinGen ExAC TOPMed gnomAD
CA348840236 rs1263176287	99	A>V		No	ClinGen Ensembl
rs1291797767 CA348840241	100	Q>*		No	ClinGen TOPMed
CA58579399 rs992183929	100	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	101	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747111790 CA348840252	102	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747111790 CA1915194	102	R>W		No	ClinGen ExAC TOPMed gnomAD
rs773818874 CA1915195	103	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA58579435 rs200704027	104	W>G		No	ClinGen Ensembl
CA58579420 rs200704027	104	W>R		No	ClinGen Ensembl
rs749124077 CA1915197	106	V>A		No	ClinGen ExAC gnomAD
CA1915196 rs777747176	106	V>F		No	ClinGen ExAC TOPMed gnomAD
CA348840294 rs749124077	106	V>G		No	ClinGen ExAC gnomAD
CA348840286 rs777747176	106	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1457217726 CA348840305	107	Q>P		No	ClinGen gnomAD
rs1457217726 CA348840307	107	Q>R		No	ClinGen gnomAD
CA1915198 rs770674510	108	V>F		No	ClinGen ExAC TOPMed gnomAD
CA348840320 rs1573999426	108	V>G		No	ClinGen Ensembl
CA58579457 rs1049172086	109	L>F		No	ClinGen TOPMed gnomAD
rs559566982 CA58579466	109	L>H		No	ClinGen 1000Genomes TOPMed
CA348840356 rs1375538407	110	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	110	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1008648592 CA58579487	111	I>T		No	ClinGen TOPMed gnomAD
CA348840363 rs1366694757	111	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1915201 rs199937873	112	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1329893350 CA348840402	113	C>G		No	ClinGen gnomAD
RCV001810617 rs1699498035	114	S>L		No	ClinVar dbSNP
CA348840449 rs1573999666	115	L>P		No	ClinGen Ensembl
CA348840506 rs1323180675	118	A>V		No	ClinGen TOPMed gnomAD
CA58579534 rs146940034	119	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA348840531 rs1229718875	119	I>S		No	ClinGen gnomAD
rs146940034 CA1915203	119	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1915204 rs764555922	120	L>F		No	ClinGen ExAC TOPMed gnomAD
CA348840582 rs901778759	122	A>D		No	ClinGen TOPMed gnomAD
CA58579548 rs901778759	122	A>V		No	ClinGen TOPMed gnomAD
CA348840610 rs1208975908	124	L>F		No	ClinGen gnomAD
rs765645541 CA1915208	125	L>F		No	ClinGen ExAC gnomAD
rs1261912786 CA348840653	126	A>D		No	ClinGen gnomAD
CA1915212 rs528193867	127	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1458758385 CA348840670	128	A>G		No	ClinGen gnomAD
CA1915216 rs777605512	129	Y>C		No	ClinGen ExAC gnomAD
rs749177103 CA1915217	130	L>W		No	ClinGen ExAC gnomAD
CA348840687 rs1385788166	131	I>F		No	ClinGen TOPMed
CA1915218 rs374667313	132	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166925676 CA348840698	133	K>E		No	ClinGen TOPMed
CA58579635 rs888746382	134	E>K		No	ClinGen gnomAD
CA348840729 rs1189731062	135	L>F		No	ClinGen TOPMed
CA58581370 rs1038283212	136	H>D		No	ClinGen Ensembl
CA348840732 rs1559220831	136	H>R		No	ClinGen Ensembl
CA348840748 rs1424169019	138	E>D		No	ClinGen TOPMed gnomAD
CA1915275 rs750339096	138	E>Q		No	ClinGen ExAC gnomAD
rs1180866886 CA348840773	142	N>H		No	ClinGen TOPMed gnomAD
CA348840791 rs1488674819	144	D>G		No	ClinGen gnomAD
CA1915278 rs762878247	144	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1915279 rs766218992	146	V>I		No	ClinGen ExAC gnomAD
CA1915280 rs371477727	147	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1915281 rs754794336	148	T>A		No	ClinGen ExAC gnomAD
CA1915282 rs781027176	149	G>R		No	ClinGen ExAC TOPMed gnomAD
CA348840829 rs1343612782	150	L>P		No	ClinGen TOPMed
CA348840849 rs1274769843	151	L>S		No	ClinGen TOPMed
CA348844565 rs1197718682	152	G>V		No	ClinGen gnomAD
TCGA novel	154	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1915309 rs758773462	154	W>C		No	ClinGen ExAC gnomAD
CA1915310 rs141813011	155	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs768975983 CA348844599	158	I>K		No	ClinGen ExAC gnomAD
CA58595792 rs182329683	158	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1406235664 CA348844601	158	I>M		No	ClinGen TOPMed gnomAD
rs768975983 CA1915312	158	I>T		No	ClinGen ExAC gnomAD
CA1915311 COSM1727212 rs182329683	158	I>V	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1915313 rs776691871	159	I>L		No	ClinGen ExAC gnomAD
TCGA novel	162	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376028218 CA1915316	164	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA348844642 rs1207821955	165	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM1482062 CA1915317 rs759482982	172	W>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1300193317 CA348844714	175	T>I		No	ClinGen TOPMed
CA1915320 rs775485483	177	F>L		No	ClinGen ExAC gnomAD
CA1915321 rs369276320	179	S>F		No	ClinGen ESP ExAC gnomAD
rs1216629590 CA348844760	182	P>A		No	ClinGen TOPMed gnomAD
rs1216629590 CA348844761	182	P>S		No	ClinGen TOPMed gnomAD
rs1477820128 CA348844777	184	M>I		No	ClinGen gnomAD
rs1264539273 CA348844771	184	M>L		No	ClinGen TOPMed gnomAD
rs1264539273 CA348844773	184	M>V		No	ClinGen TOPMed gnomAD
CA348844793 rs1191650509	186	P>L		No	ClinGen gnomAD
CA348844794 rs1370614609	187	P>A		No	ClinGen gnomAD
rs1473314737 CA348844805	188	T>I		No	ClinGen gnomAD
CA58595860 rs1035943931	189	P>T		No	ClinGen Ensembl
TCGA novel	190	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162924729 CA348844818	191	S>P		No	ClinGen gnomAD
rs756814018 CA1915324	192	P>S		No	ClinGen ExAC gnomAD
CA348844823 rs756814018	192	P>T		No	ClinGen ExAC gnomAD
rs764592567 CA1915325	193	A>T		No	ClinGen ExAC TOPMed gnomAD
rs201670213 CA1915327	194	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309737569 CA348844835	194	R>M		No	ClinGen TOPMed
rs1314744148 CA348844846	195	F>L		No	ClinGen gnomAD
CA1915328 rs780521809	196	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1915363 rs776353229	200	G>E		No	ClinGen ExAC gnomAD
CA58554041 rs898073942	204	H>Y		No	ClinGen Ensembl
rs1179542374 CA348830100	207	Y>N		No	ClinGen gnomAD
rs769480444 CA1915366	209	M>L		No	ClinGen ExAC TOPMed gnomAD
CA348830116 rs769480444	209	M>V		No	ClinGen ExAC TOPMed gnomAD
CA348830127 rs1417427421	210	A>V		No	ClinGen TOPMed gnomAD
rs1378272205 CA348830134	211	I>T		No	ClinGen gnomAD
rs144699421 CA1915369	213	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1174150490 CA348830148	213	N>S		No	ClinGen TOPMed gnomAD
rs1447193439 CA348830159	215	I>V		No	ClinGen gnomAD
rs371666118 CA1915371	216	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371666118 CA1915372	216	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1915374 rs753053720	217	A>P		No	ClinGen ExAC gnomAD
CA1915373 rs753053720	217	A>S		No	ClinGen ExAC gnomAD
rs778173653 CA1915375	217	A>V		No	ClinGen ExAC gnomAD
rs1223495089 CA348830176	218	A>V		No	ClinGen gnomAD
rs1193717978 CA348830188	220	T>I		No	ClinGen TOPMed
CA348830183 rs1261783228	220	T>P		No	ClinGen gnomAD
rs1261783228 CA348830185	220	T>S		No	ClinGen gnomAD
rs373963152 CA1915377	222	A>S		No	ClinGen ESP ExAC gnomAD
rs373963152 CA1915376	222	A>T		No	ClinGen ESP ExAC gnomAD
CA1915378 rs779067094	222	A>V		No	ClinGen ExAC gnomAD
CA348830222 rs754925855	226	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1915380 rs754925855	226	M>V		No	ClinGen ExAC TOPMed gnomAD
rs781163954 CA1915381	227	M>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q8N6S5

No regional properties for Q8N6S5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8N6S5

Functions

		Description
EC Number
Subcellular Localization	Nucleus inner membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nuclear inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MSFAESGWRS	ALRRRGPGTP	GPVARPSYSS	FTQGDSWGEG	EVDEEEGCDQ	VARDLRAEFS
70	80	90	100	110	120
AGAWSEPRKR	SVLPPDGNGS	PVLPDKRNGI	FPAAAGSRAQ	PRRWPVQVLS	ILCSLLFAIL
130	140	150	160	170	180
LAFLLAIAYL	IVKELHAENL	KNEDDVDTGL	LGFWTLLIIS	LTAGFSCCSF	SWTVTYFDSF
190	200	210	220
EPGMFPPTPL	SPARFKKLTG	HSFHMGYSMA	ILNGIVAALT	VAWCLM