AiPD: Autoinhibited Protein Database

Q6NXP2

Gene name	GARIN1A
Protein name	Golgi-associated RAB2 interactor protein 1A
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:346653
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-44 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-44 (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 Q6NXP2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6NXP2-F1	Predicted				AlphaFoldDB

292 variants for Q6NXP2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1431074326 CA369162220	2	S>N		No	ClinGen gnomAD
rs781488769 CA4471913	3	K>E		No	ClinGen ExAC TOPMed gnomAD
CA369162252 rs1418506501	3	K>N		No	ClinGen TOPMed gnomAD
rs74343948 CA4471914	4	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756423259 CA4471915	5	R>G		No	ClinGen ExAC TOPMed gnomAD
CA166187807 rs201001344	6	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369162287 rs1437013441	6	G>R		No	ClinGen gnomAD
CA4471916 rs201001344	6	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311685226 CA369162325	8	P>L		No	ClinGen gnomAD
rs1385274098 CA369162317	8	P>T		No	ClinGen gnomAD
CA369162363 rs1334403184	10	E>G		No	ClinGen TOPMed
CA166187838 rs1010663155	11	V>I		No	ClinGen TOPMed
CA369162395 rs1284596759	13	E>K		No	ClinGen gnomAD
CA166187839 rs995221183	18	V>A		No	ClinGen Ensembl
rs1265195518 CA369162539	21	G>E		No	ClinGen gnomAD
CA166187846 rs1026242310	21	G>R		No	ClinGen Ensembl
rs1180150439 CA369162549	22	V>E		No	ClinGen gnomAD
CA4471919 rs773021425	23	E>K		No	ClinGen ExAC gnomAD
rs746478901 CA4471920	24	N>D		No	ClinGen ExAC gnomAD
TCGA novel	24	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770487374 CA4471923	26	L>P		No	ClinGen ExAC gnomAD
rs777765887	27	L>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs776418779 CA4471924	27	L>P		No	ClinGen ExAC
CA369162616 rs1163854558	29	Q>*		No	ClinGen gnomAD
CA369162621 rs1347931713	29	Q>H		No	ClinGen gnomAD
rs1377928614 CA369162648	32	H>D		No	ClinGen gnomAD
CA369162818 rs1307149322	34	P>L		No	ClinGen gnomAD
rs976537921 CA166187896	34	P>S		No	ClinGen TOPMed gnomAD
rs200331102 CA166187899	37	N>K		No	ClinGen Ensembl
rs1229428139 CA369162867	38	L>F		No	ClinGen gnomAD
CA4471927 rs764908789	38	L>M		No	ClinGen ExAC gnomAD
CA369162904 rs1200838954	41	N>I		No	ClinGen gnomAD
rs1200838954 CA369162902	41	N>S		No	ClinGen gnomAD
rs764257553 CA4471930	42	S>A		No	ClinGen ExAC gnomAD
rs751780919 CA4471931	42	S>L		No	ClinGen ExAC TOPMed gnomAD
CA369162911 rs764257553	42	S>T		No	ClinGen ExAC gnomAD
CA166187961 rs201378634	44	V>A		No	ClinGen 1000Genomes ExAC TOPMed
CA4471933 rs201378634	44	V>G		No	ClinGen 1000Genomes ExAC TOPMed
CA166187977 rs1029480805	45	F>V		No	ClinGen TOPMed gnomAD
rs1472816271 CA369162956	46	E>G		No	ClinGen TOPMed gnomAD
CA369162982 rs1181229931	48	N>S		No	ClinGen gnomAD
rs750893358 CA4471934	50	I>F		No	ClinGen ExAC gnomAD
rs1171112884 CA369163013	50	I>N		No	ClinGen gnomAD
rs750893358 CA369163004	50	I>V		No	ClinGen ExAC gnomAD
CA369163027 rs1465270575	51	Q>*		No	ClinGen gnomAD
rs762666304 CA369163651	52	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4471949 rs762666304	52	T>N		No	ClinGen ExAC TOPMed gnomAD
CA4471950 rs371349327	53	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA166190401 rs967687801	53	H>R		No	ClinGen Ensembl
TCGA novel	56	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767467286 CA4471953	56	E>V		No	ClinGen ExAC gnomAD
rs750566579 CA369163747	57	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4471954 rs750566579	57	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1262314654 CA369163787	59	F>C		No	ClinGen gnomAD
CA4471955 rs760693626	61	V>F		No	ClinGen ExAC gnomAD
rs755380212 CA4471958	65	G>R		No	ClinGen ExAC TOPMed gnomAD
CA369163875 rs1172108213	66	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	67	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4471959 rs192205091	67	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751139306 CA4471960	68	R>K		No	ClinGen ExAC
rs371977746 CA4471961	69	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4471963 rs184412982	70	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4471962 rs549536126	70	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA166190458 rs1004531268	71	C>*		No	ClinGen TOPMed
rs769294197 CA4471964	73	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4471965 rs779905927	75	A>T		No	ClinGen ExAC gnomAD
CA4471966 rs749283671	76	T>A		No	ClinGen ExAC gnomAD
rs562611087 CA4471967	77	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1378489956 CA369164094	78	I>V		No	ClinGen gnomAD
CA369164116 rs1285301246	79	L>F		No	ClinGen gnomAD
CA369164138 rs1218079098	80	G>A		No	ClinGen TOPMed gnomAD
CA166190546 rs888476392 CA166190545	80	G>R		No	ClinGen TOPMed gnomAD
CA4471970 rs772289999	81	V>F		No	ClinGen ExAC TOPMed gnomAD
CA369164147 rs772289999	81	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1476956344 CA369164166	82	T>I		No	ClinGen TOPMed
rs1584931494 CA369164154	82	T>P		No	ClinGen Ensembl
CA4471973 rs766580474	83	S>T		No	ClinGen ExAC TOPMed gnomAD
CA4471974 rs754390092	84	S>L		No	ClinGen ExAC TOPMed gnomAD
rs754390092 CA166190579	84	S>W		No	ClinGen ExAC TOPMed gnomAD
CA4471976 rs201441699	87	S>P		No	ClinGen ExAC gnomAD
CA4471978 rs758717361	92	N>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	92	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4471979 rs758717361	92	N>S		No	ClinGen ExAC TOPMed gnomAD
rs750053765 CA4471981	93	V>A		No	ClinGen ExAC gnomAD
rs1333945996 CA369164291	94	L>F		No	ClinGen gnomAD
rs376623632 CA166190602	96	M>T		No	ClinGen ESP TOPMed
rs1246935049 CA369164321	97	A>T		No	ClinGen gnomAD
CA4471983 rs779609160	97	A>V		No	ClinGen ExAC gnomAD
CA4471984 rs749197422	98	N>H		No	ClinGen ExAC
rs1283018373 CA369164340	98	N>S		No	ClinGen TOPMed
rs1207774597 CA369164371	100	T>I		No	ClinGen gnomAD
rs754961963 CA4471986	102	P>R		No	ClinGen ExAC gnomAD
CA369164412 rs1229573842	103	Q>H		No	ClinGen Ensembl
CA369164423 rs1199395290	104	G>A		No	ClinGen gnomAD
rs1237680642 CA369164432	105	P>A		No	ClinGen TOPMed gnomAD
rs1417351120 CA369164435	105	P>Q		No	ClinGen TOPMed gnomAD
CA369164434 rs1237680642	105	P>S		No	ClinGen TOPMed gnomAD
rs1035299828 CA166190630	107	T>A		No	ClinGen Ensembl
rs771770491 CA166190637	107	T>I		No	ClinGen ExAC TOPMed gnomAD
rs771770491 CA4471989	107	T>S		No	ClinGen ExAC TOPMed gnomAD
rs200234987 CA166190646	109	W>*		No	ClinGen Ensembl
VAR_037267 CA4471990 rs17169357	112	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4471992 rs747300755	113	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4471991 rs747300755	113	G>D		No	ClinGen ExAC TOPMed gnomAD
VAR_037268 rs6971819 CA4471993	114	D>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369164555 rs1393719693	115	A>D		No	ClinGen TOPMed gnomAD
rs879682991 CA4471995	115	A>T		No	ClinGen TOPMed gnomAD
rs765795045 CA4471997	116	P>A		No	ClinGen ExAC gnomAD
rs775861106 CA4471998	116	P>R		No	ClinGen ExAC gnomAD
rs1231281577 CA369164582	118	I>N		No	ClinGen TOPMed gnomAD
rs1318287728 CA369164588	119	N>D		No	ClinGen gnomAD
CA4472001 rs375136720	119	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755805956 CA4472003	121	S>N		No	ClinGen ExAC gnomAD
CA369165021 TCGA novel rs1277562384	122	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
TCGA novel	124	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369165097 rs1418934353	125	P>S		No	ClinGen gnomAD
TCGA novel	126	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303499849 CA369165134	126	L>V		No	ClinGen TOPMed
CA4472042 rs757118745	127	K>R		No	ClinGen ExAC gnomAD
CA4472043 rs201240369	128	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370351243 CA369165200	129	V>E		No	ClinGen gnomAD
CA4472045 rs769910752	129	V>M		No	ClinGen ExAC TOPMed gnomAD
CA369165226 rs1288864938	130	E>D		No	ClinGen TOPMed gnomAD
CA4472046 rs780040728	130	E>K		No	ClinGen ExAC TOPMed gnomAD
CA369165233 rs1355033625	131	L>Q		No	ClinGen gnomAD
CA166192412 rs1052231589	132	R>*		No	ClinGen TOPMed
rs749783143 CA369165246	132	R>P		No	ClinGen ExAC TOPMed gnomAD
rs749783143 CA4472047	132	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs181109862 CA4472049	134	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs181109862 CA4472048	134	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369165301 rs1489644213	135	D>N		No	ClinGen gnomAD
CA4472051 rs186458943	136	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4472050 rs6467210 VAR_037269	136	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1584935643 CA369165381	138	Q>*		No	ClinGen Ensembl
CA369165391 rs1179961917	138	Q>H		No	ClinGen gnomAD
rs1584935653 CA369165382	138	Q>P		No	ClinGen Ensembl
rs776255301 CA4472052	139	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4472053 rs531576408	139	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4472054 rs764781019	140	I>F		No	ClinGen ExAC gnomAD
CA369165445 rs1563093655	142	R>M		No	ClinGen Ensembl
rs1458165865 CA369165472	144	R>K		No	ClinGen gnomAD
CA4472056 rs762556424	146	V>A		No	ClinGen ExAC TOPMed gnomAD
CA369165517 rs1362414509	147	T>S		No	ClinGen TOPMed gnomAD
CA369165540 rs1254155090	148	E>D		No	ClinGen TOPMed
CA4472058 rs200938500	148	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA166192493 rs1014236879	149	K>N		No	ClinGen TOPMed
rs1046174394 CA166192497	150	I>F		No	ClinGen TOPMed gnomAD
CA369165556 rs1046174394	150	I>V		No	ClinGen TOPMed gnomAD
rs781197315 CA4472060	151	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs372599605 CA4472063	152	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372599605 CA4472062	152	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374865079 CA369165629	153	L>Q		No	ClinGen TOPMed
rs749291100 CA4472064	153	L>V		No	ClinGen ExAC gnomAD
CA166192515 rs571067980	155	L>H		No	ClinGen 1000Genomes
CA166192525 rs768787544	156	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs553880583 CA4472066	157	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748714129 CA4472067	158	K>N		No	ClinGen ExAC gnomAD
CA369165772 rs1405043883	159	H>R		No	ClinGen TOPMed
rs1175420643 CA369165793	161	E>K		No	ClinGen gnomAD
CA4472068 rs772423422	162	I>F		No	ClinGen ExAC gnomAD
CA369165858 rs1171301233	162	I>T		No	ClinGen TOPMed
CA4472069 rs773614211	163	V>M		No	ClinGen ExAC gnomAD
CA4472070 rs761122140	164	F>L		No	ClinGen ExAC gnomAD
TCGA novel	165	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4472071 rs769291032	166	F>V		No	ClinGen ExAC gnomAD
CA369166110 rs1284485592	169	R>C		No	ClinGen gnomAD
CA4472072 rs377562102	169	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA369166276 rs1297032662	175	Q>E		No	ClinGen TOPMed gnomAD
CA369166293 rs1381958352	176	K>Q		No	ClinGen gnomAD
CA369166310 rs1229304049	176	K>R		No	ClinGen gnomAD
CA4472077 rs199592994	177	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	177	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4472076 rs199592994	177	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs969739917 CA166192632	180	I>V		No	ClinGen Ensembl
rs201533178 CA4472079	182	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1288730925 CA369166561	184	D>V		No	ClinGen gnomAD
CA4472080 rs766449722	185	P>L		No	ClinGen ExAC gnomAD
CA4472082 rs554571321	186	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs779032793 CA4472083	188	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1351241491 CA369166650	189	F>L		No	ClinGen TOPMed
CA369166656 rs1478648479	190	T>A		No	ClinGen TOPMed gnomAD
rs1478648479 CA369166655	190	T>P		No	ClinGen TOPMed gnomAD
CA4472084 rs748624402	190	T>S		No	ClinGen ExAC gnomAD
CA166192682 rs914063241	192	C>F		No	ClinGen Ensembl
rs79425518 CA166192676	192	C>G		No	ClinGen 1000Genomes
rs1020657862 CA166192692	193	L>V		No	ClinGen TOPMed gnomAD
CA166192700 rs945491450	196	K>Q		No	ClinGen Ensembl
CA4472087 rs747269571	200	N>K		No	ClinGen ExAC gnomAD
rs778282553 CA4472086	200	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	203	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369168001 rs1240573260	208	N>H		No	ClinGen TOPMed
rs1367702425 CA369168032	209	S>C		No	ClinGen gnomAD
rs1420240519 CA369168057	210	L>V		No	ClinGen gnomAD
rs1355744503 CA369168181	213	S>F		No	ClinGen TOPMed gnomAD
rs1584940252 CA369168173	213	S>P		No	ClinGen Ensembl
rs1355744503 CA369168179	213	S>Y		No	ClinGen TOPMed gnomAD
rs368932053 CA4472105	215	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs368932053 CA369168227	215	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA369168286 rs1213923857	216	P>L		No	ClinGen gnomAD
rs1445021791 CA369168275	216	P>S		No	ClinGen gnomAD
CA369168313 rs983045606 CA166194635	217	S>R		No	ClinGen TOPMed gnomAD
rs757554559 CA166194652	218	E>*		No	ClinGen ExAC gnomAD
CA4472108 rs748867865	218	E>D		No	ClinGen ExAC gnomAD
CA4472106 rs757554559	218	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4472107 rs757554559	218	E>Q		No	ClinGen ExAC gnomAD
CA369168379 rs1442055406	219	P>L		No	ClinGen gnomAD
rs1393858272 CA369168368	219	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs149791707 CA4472109	220	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4472112 rs375215194	221	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4472111 rs375215194	221	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1439586624 CA369168512	224	A>T		No	ClinGen gnomAD
CA4472113 rs367837931	224	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1240818543 CA369168553	225	A>G		No	ClinGen gnomAD
CA4472115 rs770603217	225	A>S		No	ClinGen ExAC
rs776540957 CA4472116	226	E>G		No	ClinGen ExAC gnomAD
CA369168576 rs1278827630	226	E>Q		No	ClinGen gnomAD
rs1211404063 CA369168607	227	Q>K		No	ClinGen gnomAD
CA4472118 rs368251376	230	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs759355770 CA4472117	230	G>S		No	ClinGen ExAC TOPMed gnomAD
CA166194773 rs77491733	231	S>R		No	ClinGen Ensembl
rs371631002 CA4472119	231	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA166194774 rs1043279823	233	S>*		No	ClinGen TOPMed
CA166194780 rs375045908	234	Q>R		No	ClinGen ESP gnomAD
CA166194781 rs903483380	235	L>F		No	ClinGen TOPMed
rs1468979591 CA369168874	237	G>E		No	ClinGen gnomAD
CA4472121 rs764297522	237	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4472122 rs574749545	238	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs369264778 CA166194786	240	Q>H		No	ClinGen ESP TOPMed gnomAD
rs757828998 CA4472123	242	T>I		No	ClinGen ExAC gnomAD
CA369169058 rs757828998	242	T>R		No	ClinGen ExAC gnomAD
rs1157330358 CA369169139	245	R>K		No	ClinGen TOPMed
rs759267839 CA4472134	246	N>S		No	ClinGen ExAC gnomAD
rs879580795 CA166196748	248	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA369170343 rs1462100522	249	T>A		No	ClinGen gnomAD
CA369170348 rs1462100522	249	T>P		No	ClinGen gnomAD
CA369170402 rs1166782051	250	A>V		No	ClinGen TOPMed gnomAD
VAR_037270 CA4472136 rs1109552	251	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1313360581 CA369170507	253	I>T		No	ClinGen gnomAD
rs763198932 CA4472137	254	D>V		No	ClinGen ExAC TOPMed gnomAD
CA4472138 rs764054595	256	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs374335078 CA4472139	257	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs988315089 CA166196797	259	Y>C		No	ClinGen gnomAD
CA166196800 rs761832287	260	K>*		No	ClinGen ExAC TOPMed gnomAD
rs761832287 CA4472140	260	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA369170777 rs1404824849	260	K>R		No	ClinGen TOPMed gnomAD
CA369170790 rs1563098294	261	I>M		No	ClinGen Ensembl
CA4472141 rs527913836	261	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750984901 CA4472142	262	P>T		No	ClinGen ExAC gnomAD
CA4472144 rs756538523	263	S>F		No	ClinGen ExAC gnomAD
CA4472145 rs780632782	264	P>S		No	ClinGen ExAC TOPMed gnomAD
rs549582682 CA4472146	266	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA369170937 rs1264942357	269	I>V		No	ClinGen gnomAD
rs758120979 CA4472147	271	L>*		No	ClinGen ExAC gnomAD
CA369171015 rs1370864794	271	L>F		No	ClinGen gnomAD
rs1333030348 CA369171022	272	N>H		No	ClinGen gnomAD
CA4472149 rs777315740	274	P>A		No	ClinGen ExAC gnomAD
rs756731011 CA4472150	274	P>R		No	ClinGen ExAC gnomAD
CA4472148 rs777315740	274	P>S		No	ClinGen ExAC gnomAD
CA369171173 rs1299777518	275	M>I		No	ClinGen gnomAD
rs183291220 CA4472151	275	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA369171195 rs201007599	276	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4472152 rs201007599	276	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA369171206 CA4472153 rs769543432	276	R>S		No	ClinGen ExAC TOPMed gnomAD
rs79412392 CA166196868	280	S>T		No	ClinGen Ensembl
CA369171346 rs1295056566	282	S>G		No	ClinGen gnomAD
TCGA novel	282	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4472154 rs775310075	283	L>P		No	ClinGen ExAC gnomAD
rs1304878087 CA369171394	284	W>*		No	ClinGen gnomAD
CA369171448 rs1209225698	286	Q>*		No	ClinGen gnomAD
CA369171478 rs1486368659	287	E>G		No	ClinGen TOPMed gnomAD
rs774443286 CA4472157	288	D>E		No	ClinGen ExAC TOPMed gnomAD
rs768885857 CA4472156	288	D>N		No	ClinGen ExAC gnomAD
rs1434459130 CA369171562	289	W>C		No	ClinGen gnomAD
rs370836694 CA166196883	289	W>R		No	ClinGen ESP
CA4472158 rs761898770	290	N>H		No	ClinGen ExAC gnomAD
CA4472159 rs767555244	292	H>N		No	ClinGen ExAC gnomAD
CA369171646 rs1364657803	292	H>R		No	ClinGen TOPMed
CA166196910 rs749074784	295	Q>*		No	ClinGen Ensembl
TCGA novel	296	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1452704559 CA369171772	297	H>L		No	ClinGen gnomAD
rs1305447374 CA369171796	298	I>T		No	ClinGen gnomAD
rs1288582764 CA369171790	298	I>V		No	ClinGen gnomAD
TCGA novel	300	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374144352 CA4472162	301	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369171871 rs1443253902	302	L>V		No	ClinGen gnomAD
rs754208038 CA4472163	303	G>R		No	ClinGen ExAC gnomAD
TCGA novel	304	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4472165 rs763743585	305	H>P		No	ClinGen ExAC gnomAD
rs1317902655 CA369171951	305	H>Q		No	ClinGen gnomAD
rs1213887539 CA369172034	308	G>*		No	ClinGen gnomAD
rs763351301 CA166196927	308	G>E		No	ClinGen Ensembl
CA4472167 rs756787359	309	A>T		No	ClinGen ExAC gnomAD

No associated diseases with Q6NXP2

1 regional properties for Q6NXP2

Type	Name	Position	InterPro Accession
domain	Golgi associated RAB2 interactor protein-like, Rab2B-binding domain	118 - 185	IPR022168

Functions

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

1 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
acrosome assembly	The formation of the acrosome from the spermatid Golgi.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A1L3C1	Garin5a	Golgi-associated RAB2 interactor protein 5A	Mus musculus (Mouse)	PR
Q5RJN7	Garin1a	Golgi-associated RAB2 interactor protein 1A	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSKIRGLPPE	VREPGPGVEL	GVENGLLCQL	IHSPEFNLFS	NSVVFESNFI	QTHVPEADFQ
70	80	90	100	110	120
VTKPGNWRDV	CEGSATVILG	VTSSVPSLPL	PNVLLMANVT	WPQGPFTTWS	TPGDAPVINL
130	140	150	160	170	180
SRLLPLKYVE	LRIYDRLQRI	LRVRTVTEKI	YYLKLHEKHP	EIVFQFWVRL	VKILQKGLSI
190	200	210	220	230	240
TTKDPRIKFT	HCLVPKMPTN	STETTPENSL	LSSPQPSEPL	VLLAAEQTSG	SFSQLSGKPQ
250	260	270	280	290	300
LTADRNNDTA	IEIDNCSSYK	IPSPVASPIN	LNIPMRAALS	HSLWEQEDWN	EHLLQVHIAS

YLGEHFLGA