AiPD: Autoinhibited Protein Database

Q12829

Gene name	RAB40B (SEC4L)
Protein name	Ras-related protein Rab-40B
Names	SOCS box-containing protein RAR, Protein Rar
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10966
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

146-278 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

146-278 (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 Q12829

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q12829-F1	Predicted				AlphaFoldDB

266 variants for Q12829

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs770513487 CA8860647	2	S>G		No	ClinGen ExAC gnomAD
rs1450928073 CA401621373	3	A>T		No	ClinGen TOPMed
CA8860645 rs777152530	6	S>C		No	ClinGen ExAC gnomAD
rs771683284 CA8860644	8	V>A		No	ClinGen ExAC TOPMed
CA401621335 rs1179704082	9	R>Q		No	ClinGen gnomAD
rs749785771 CA8860642	9	R>W		No	ClinGen ExAC gnomAD
rs1206736987 CA401621301	14	L>M		No	ClinGen gnomAD
rs1273911770 CA401621283	16	K>N		No	ClinGen gnomAD
CA295242941 rs201252583	19	L>M		No	ClinGen 1000Genomes gnomAD
CA401621269 rs201252583	19	L>V		No	ClinGen 1000Genomes gnomAD
CA401621265 rs1310337093	20	V>L		No	ClinGen gnomAD
rs1598323994 CA401621254	21	G>V		No	ClinGen Ensembl
rs764066799 CA8860635	22	D>A		No	ClinGen ExAC gnomAD
rs751871099 CA8860636	22	D>N		No	ClinGen ExAC gnomAD
rs919591952 CA401621233	24	D>E		No	ClinGen TOPMed gnomAD
CA8860634 rs758599740	28	G>S		No	ClinGen ExAC gnomAD
CA295242874 rs11548172	31	L>M		No	ClinGen Ensembl
rs199586588 CA8860631	32	A>E		No	ClinGen ExAC TOPMed gnomAD
rs199586588 CA401621183	32	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	36	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs908385625 CA295242843	37	G>D		No	ClinGen TOPMed gnomAD
rs776305176 CA8860630	37	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8860628 rs760240396	38	A>G		No	ClinGen ExAC gnomAD
CA8860629 rs200627779	38	A>T		No	ClinGen ExAC gnomAD
TCGA novel	39	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8860627 rs772979637	40	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1033584881 CA295242815	41	S>F		No	ClinGen TOPMed
CA8860624 rs775939518	42	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8860625 rs775939518	42	P>R		No	ClinGen ExAC TOPMed gnomAD
rs17855477 CA8860626	42	P>S		No	ClinGen ESP ExAC gnomAD
rs17855477 CA295242810	42	P>T		No	ClinGen ESP ExAC gnomAD
rs746161293 CA8860622	43	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs746161293 CA401621081	43	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs201968958 CA295242794	44	G>S		No	ClinGen Ensembl
rs781402831 CA8860621	46	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747177423 CA8860619	47	A>E		No	ClinGen ExAC gnomAD
CA8860617 rs758511174	48	G>S		No	ClinGen ExAC gnomAD
CA8860589 rs552154179	49	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8860587 rs763568945	49	I>M		No	ClinGen ExAC TOPMed gnomAD
CA401618901 rs1357435302	50	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401618890 rs1260465690	51	Y>C		No	ClinGen TOPMed
CA8860585 rs374345452	53	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401618870 rs760889224	54	T>I		No	ClinGen ExAC gnomAD
CA8860582 rs760889224	54	T>N		No	ClinGen ExAC gnomAD
rs771489045 CA8860583	54	T>S		No	ClinGen ExAC gnomAD
rs1306050384 CA401618868	55	T>A		No	ClinGen gnomAD
CA8860581 rs773717114	56	I>T		No	ClinGen ExAC gnomAD
CA8860579 rs137963946	59	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA401618845 rs1164826460	59	D>N		No	ClinGen gnomAD
CA8860577 rs566512228	60	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA401618840 rs1306146990	60	G>R		No	ClinGen gnomAD
rs749420184 CA8860576	61	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401618835 rs1182983698	61	R>W		No	ClinGen TOPMed gnomAD
rs750392311 CA295287779	62	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750392311 CA8860573	62	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8860574 rs150336027	62	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195048030 CA401618807	66	Q>R		No	ClinGen TOPMed
rs1424138432 CA401618800	67	L>F		No	ClinGen TOPMed
rs1317717247 CA401618750	72	G>V		No	ClinGen gnomAD
TCGA novel	73	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8860547 rs764792723	73	Q>K		No	ClinGen ExAC gnomAD
rs1209666998 CA401618728	76	F>L		No	ClinGen TOPMed
rs1182059653 CA401618716	77	C>Y		No	ClinGen gnomAD
CA8860546 rs754495699	78	T>I		No	ClinGen ExAC gnomAD
rs1478007629 CA401618705	79	I>T		No	ClinGen gnomAD
CA8860545 rs377623305	79	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860544 rs768174080	81	R>C		No	ClinGen ExAC gnomAD
rs762222809 CA8860543	81	R>H		No	ClinGen ExAC gnomAD
CA401618686 rs1435452880	82	S>F		No	ClinGen TOPMed
rs774871985 CA8860542	82	S>P		No	ClinGen ExAC gnomAD
rs781464100 CA295284891	83	Y>*		No	ClinGen gnomAD
CA8860540 rs370010463	85	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860541 rs114060137	85	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1347119265 CA401618659	87	A>G		No	ClinGen gnomAD
rs769882409 CA8860538	88	Q>E		No	ClinGen ExAC gnomAD
rs771869315 CA8860511	90	V>A		No	ClinGen ExAC gnomAD
rs778583935 CA8860509	91	I>S		No	ClinGen ExAC TOPMed gnomAD
rs778583935 CA8860510	91	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1294236155 CA401618188	96	I>L		No	ClinGen TOPMed
rs1251931157 CA401618176	97	A>V		No	ClinGen gnomAD
rs779694195 CA8860506	98	N>H		No	ClinGen ExAC TOPMed gnomAD
rs755731742 CA8860505	99	R>C		No	ClinGen ExAC gnomAD
CA295283043 rs1049789454	99	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA401618145 rs1222109734	102	F>S		No	ClinGen gnomAD
CA401618138 rs202021296	103	D>G		No	ClinGen gnomAD
CA401618140 rs1323727688	103	D>H		No	ClinGen gnomAD
CA295283039 rs202021296	103	D>V		No	ClinGen gnomAD
CA8860503 rs374244317	104	G>D		No	ClinGen ESP ExAC gnomAD
CA295283028 rs866093670	105	I>T		No	ClinGen Ensembl
CA295283029 rs930885754	105	I>V		No	ClinGen Ensembl
CA8860502 rs140084045	106	D>G		No	ClinGen ESP ExAC gnomAD
rs140084045 CA401618120	106	D>V		No	ClinGen ESP ExAC gnomAD
rs753016754 CA8860501	107	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1373318430 CA401618116	107	R>Q		No	ClinGen gnomAD
rs1294483177 CA401618110	108	W>*		No	ClinGen gnomAD
rs1483541270 CA401618096	110	K>E		No	ClinGen TOPMed
CA401618079 rs1568028746	112	I>L		No	ClinGen Ensembl
CA8860499 COSM1750431 rs202136186	113	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1450316905 CA401618045	115	H>Y		No	ClinGen gnomAD
rs1303271447 CA401618034	116	A>V		No	ClinGen TOPMed
CA295281817 rs200202167 CA295281809	118	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA8860470 rs761656142	119	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1488331788 CA401618016	120	P>S		No	ClinGen TOPMed
CA8860467 rs763945727	121	K>R		No	ClinGen ExAC gnomAD
CA8860466 rs199951104	124	V>E		No	ClinGen 1000Genomes ExAC
CA401617979 rs1598291905	126	N>T		No	ClinGen Ensembl
CA8860464 rs775231505	127	R>C		No	ClinGen ExAC gnomAD
rs1158631821 CA401617972	127	R>H		No	ClinGen TOPMed
CA401617959 rs1377939031	129	H>L		No	ClinGen TOPMed
rs1380191731 CA401617947 COSM1387528	131	A>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1380191731 CA401617946	131	A>V		No	ClinGen gnomAD
CA8860460 rs375262445	134	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860461 rs151152124 COSM1263704	134	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201640296 CA8860459	136	V>A		No	ClinGen ExAC gnomAD
rs201640296 CA8860458	136	V>G		No	ClinGen ExAC gnomAD
rs1172939992 CA401617916	136	V>L		No	ClinGen gnomAD
rs779437437 CA8860457	137	P>A		No	ClinGen ExAC
rs1568027946 CA401617910	137	P>L		No	ClinGen Ensembl
TCGA novel	137	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401617909 rs1216041504	138	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401617905 rs755297557	138	T>M		No	ClinGen ExAC gnomAD
rs755297557 CA8860456	138	T>R		No	ClinGen ExAC gnomAD
CA8860454 rs555079030	139	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA295281676 rs968934405	141	A>T		No	ClinGen Ensembl
CA8860453 rs756298236	141	A>V		No	ClinGen ExAC gnomAD
rs1484976081 CA401617861	145	A>D		No	ClinGen gnomAD
CA8860452 rs750727711	145	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8860451 rs767485614	146	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1206520327 CA401617858	146	E>K		No	ClinGen gnomAD
CA401617849 rs1250009282	147	R>C		No	ClinGen TOPMed gnomAD
rs757394847 CA8860450	147	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401617848 rs757394847	147	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8860449 rs751497719	148	L>P		No	ClinGen ExAC gnomAD
CA401617842 rs764146112	149	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8860448 rs764146112	149	G>S		No	ClinGen ExAC TOPMed gnomAD
CA401617836 rs775428303	150	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775428303 CA8860446	150	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401617829 rs1410387890	151	T>N		No	ClinGen TOPMed gnomAD
CA401617828 rs1410387890	151	T>S		No	ClinGen TOPMed gnomAD
rs370769484 CA8860443	152	F>L		No	ClinGen ESP ExAC
rs1165987370 CA401617805	154	E>D		No	ClinGen gnomAD
rs774792667 CA8860440	160	N>D		No	ClinGen ExAC gnomAD
CA401617761 rs1474234765	161	F>V		No	ClinGen gnomAD
CA8860439 rs367586370	162	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401617731 rs1484346984	165	E>*		No	ClinGen gnomAD
rs780395199 CA8860437	165	E>D		No	ClinGen ExAC gnomAD
CA8860436 rs756563531	166	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8860434 rs781504009	168	T>M		No	ClinGen ExAC TOPMed gnomAD
rs758404548 CA8860430	174	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs992567318 CA295281546	177	R>P		No	ClinGen gnomAD
rs992567318 CA401617638	177	R>Q		No	ClinGen gnomAD
CA8860427 rs759416119	177	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	179	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554994920 CA8860426 COSM3728252	180	M>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1295457662 CA401617612	180	M>K		No	ClinGen gnomAD
CA401617606 rs1417216343	181	D>H		No	ClinGen gnomAD
CA401617596 rs1473854610	182	R>Q		No	ClinGen gnomAD
COSM1522730 rs149210378 CA8860425	182	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8860423 rs199886901	185	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860424 rs760122122	185	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8860422 rs146639483	186	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	186	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776118016 CA401617556	187	S>I		No	ClinGen ExAC gnomAD
CA8860420 rs776118016	187	S>N		No	ClinGen ExAC gnomAD
rs8079119 CA8860419	188	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	189	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781212028 CA8860417	189	V>L		No	ClinGen ExAC TOPMed gnomAD
CA401617522 rs1207791360	190	L>R		No	ClinGen TOPMed gnomAD
rs1433193406 CA401617518	191	S>G		No	ClinGen gnomAD
CA295281126 rs1016610474	191	S>T		No	ClinGen Ensembl
CA8860392 rs748261484	193	Q>R		No	ClinGen ExAC
rs1317779692 CA401617492	194	D>E		No	ClinGen gnomAD
CA295281113 rs866105119	195	L>H		No	ClinGen Ensembl
CA401617490 rs1415529702	195	L>V		No	ClinGen gnomAD
CA8860391 rs778659354	196	C>F		No	ClinGen ExAC gnomAD
CA401617468 rs1407483597	198	R>Q		No	ClinGen TOPMed
CA401617470 rs1434431872	198	R>W		No	ClinGen TOPMed gnomAD
rs1327102424 CA401617464	199	A>P		No	ClinGen TOPMed
CA295281105 rs1012817880	199	A>V		No	ClinGen Ensembl
COSM437845 rs755955648 CA8860387	201	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8860385 rs767175482	203	C>G		No	ClinGen ExAC TOPMed gnomAD
CA401617442 rs767175482	203	C>R		No	ClinGen ExAC TOPMed gnomAD
CA401617441 rs1442499915	203	C>Y		No	ClinGen TOPMed gnomAD
CA401617431 rs1282305888	204	T>M		No	ClinGen TOPMed gnomAD
rs61758746 CA8860384	205	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61758746 CA8860383	205	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760073527 CA8860381	206	V>L		No	ClinGen ExAC gnomAD
rs1257269515 CA401617414	207	H>Q		No	ClinGen TOPMed
rs777052219 CA8860380	209	V>M		No	ClinGen ExAC gnomAD
CA401617394 rs1180493041	211	K>E		No	ClinGen TOPMed
CA8860377 rs773518741	212	L>F		No	ClinGen ExAC gnomAD
CA401617377 COSM196749 rs1414750973	213	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8860375 rs748111604	214	L>F		No	ClinGen ExAC gnomAD
CA8860374 rs774486477	216	I>T		No	ClinGen ExAC gnomAD
rs1411286187 CA401617364	216	I>V		No	ClinGen gnomAD
CA295281023 rs976072776	217	A>S		No	ClinGen gnomAD
rs61735047 CA295280995	220	S>N		No	ClinGen Ensembl
TCGA novel	223	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401617306 rs1459730672	224	S>F		No	ClinGen TOPMed
CA401617305 rs1485329941	225	F>L		No	ClinGen gnomAD
TCGA novel	225	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305555523	225	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1252252750 CA401617301	225	F>S		No	ClinGen gnomAD
rs1464517236 CA401617292 COSM986161	226	S>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1464517236 CA401617293	226	S>W		No	ClinGen TOPMed
rs1407289383 CA401617282	228	A>T		No	ClinGen Ensembl
CA401617266 rs1336995000	230	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs558276548 CA8860368	231	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8860366 rs751227091	234	R>G		No	ClinGen ExAC TOPMed gnomAD
rs763637226 CA8860365	235	M>V		No	ClinGen ExAC gnomAD
rs1341899556 CA401617225	236	M>K		No	ClinGen TOPMed
rs951529490 CA295280932	238	G>S		No	ClinGen gnomAD
CA8860362 rs767016544	239	G>S		No	ClinGen ExAC gnomAD
CA401617198 rs1448036988	240	S>Y		No	ClinGen TOPMed gnomAD
CA8860358 rs762084890	245	T>A		No	ClinGen ExAC gnomAD
CA8860359 rs762084890	245	T>P		No	ClinGen ExAC gnomAD
rs768754845 CA8860356	247	S>C		No	ClinGen ExAC TOPMed gnomAD
rs768754845 CA8860355	247	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1598290838 CA401617158	247	S>P		No	ClinGen Ensembl
CA401617131 rs1232124351	251	R>K		No	ClinGen TOPMed gnomAD
rs1232124351 CA401617130	251	R>T		No	ClinGen TOPMed gnomAD
CA295280901 rs1026176133	252	S>G		No	ClinGen gnomAD
rs749363528 CA8860354	254	L>R		No	ClinGen ExAC gnomAD
CA8860352 rs372769515	255	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860351 rs201456706	255	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs745869414 CA8860350	256	K>T		No	ClinGen ExAC gnomAD
rs780949117 CA8860349	257	V>A		No	ClinGen ExAC TOPMed gnomAD
CA401617089 rs780949117	257	V>G		No	ClinGen ExAC TOPMed gnomAD
CA401617093 rs1329939638	257	V>L		No	ClinGen gnomAD
CA8860348 rs770678910	258	K>N		No	ClinGen ExAC gnomAD
CA8860347 rs746640903	259	L>F		No	ClinGen ExAC gnomAD
CA295280856 rs777025532	260	V>I		No	ClinGen TOPMed gnomAD
rs777321865 CA8860346	261	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757876031 CA8860345	261	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8860341 rs141848764	262	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403788277 CA401617029	262	P>L		No	ClinGen TOPMed
rs141848764 CA401617036	262	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860342 rs141848764	262	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs751768948 CA8860339	263	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8860337 rs34189304	263	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34189304 CA8860336	263	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8860335 rs34189304	263	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751768948 CA8860338	263	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8860331 rs770718454	264	Q>*		No	ClinGen ExAC gnomAD
CA8860324 rs777425920	264	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs111549422 CA8860327	264	Q>P		No	ClinGen 1000Genomes TOPMed
rs771629290 CA401616994	265	S>G		No	ClinGen ExAC TOPMed
CA401616988 rs114822108	265	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs114822108 CA295280707	265	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8860323 rs771629290	265	S>R		No	ClinGen ExAC TOPMed
rs754586216 CA8860321	265	S>R		No	ClinGen ExAC TOPMed
CA8860322 rs114822108	265	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750932758 CA8860319	266	P>T		No	ClinGen ExAC TOPMed gnomAD
CA295280701 rs1035605173	267	P>A		No	ClinGen TOPMed
rs143626208 CA295280697	267	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860317 rs143626208	267	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8860318 rs143626208	267	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763069326 CA8860314	268	K>*		No	ClinGen ExAC TOPMed
rs752962837 CA8860310	268	K>I		No	ClinGen ExAC gnomAD
CA401616951 rs1316898449	268	K>N		No	ClinGen gnomAD
rs764520009	268	K>Q	Variant assessed as Somatic; 0.0001096 impact. [NCI-TCGA]	No	NCI-TCGA
CA8860312 rs763069326	268	K>Q		No	ClinGen ExAC TOPMed
TCGA novel	269	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8860308 rs759642032	275	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1369254778 CA401616844	277	I>N		No	ClinGen gnomAD
rs1369254778 CA401616843	277	I>T		No	ClinGen gnomAD

No associated diseases with Q12829

2 regional properties for Q12829

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	80 - 341	IPR000719
active_site	Serine/threonine-protein kinase, active site	202 - 214	IPR008271

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Lipid-anchor ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
endosome	A vacuole to which materials ingested by endocytosis are delivered.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synaptic vesicle	A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.

2 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.

4 GO annotations of biological process

Name	Definition
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
toxin transport	The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

28 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P07560	SEC4	Ras-related protein SEC4	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q2HJI8	RAB8B	Ras-related protein Rab-8B	Bos taurus (Bovine)	PR
A4FV54	RAB8A	Ras-related protein Rab-8A	Bos taurus (Bovine)	PR
Q1RMR4	RAB15	Ras-related protein Rab-15	Bos taurus (Bovine)	PR
Q5F470	RAB8A	Ras-related protein Rab-8A	Gallus gallus (Chicken)	PR
P0C0E4	RAB40AL	Ras-related protein Rab-40A-like	Homo sapiens (Human)	PR
Q6IQ22	RAB12	Ras-related protein Rab-12	Homo sapiens (Human)	PR
Q8WXH6	RAB40A	Ras-related protein Rab-40A	Homo sapiens (Human)	PR
Q92930	RAB8B	Ras-related protein Rab-8B	Homo sapiens (Human)	PR
Q96S21	RAB40C	Ras-related protein Rab-40C	Homo sapiens (Human)	PR
P61006	RAB8A	Ras-related protein Rab-8A	Homo sapiens (Human)	PR
P59190	RAB15	Ras-related protein Rab-15	Homo sapiens (Human)	PR
P55258	Rab8a	Ras-related protein Rab-8A	Mus musculus (Mouse)	PR
Q8K386	Rab15	Ras-related protein Rab-15	Mus musculus (Mouse)	PR
P61028	Rab8b	Ras-related protein Rab-8B	Mus musculus (Mouse)	PR
P35283	Rab12	Ras-related protein Rab-12	Mus musculus (Mouse)	PR
Q9DD03	Rab13	Ras-related protein Rab-13	Mus musculus (Mouse)	PR
Q8CB87	Rab44	Ras-related protein Rab-44	Mus musculus (Mouse)	PR
Q8VHQ4	Rab40c	Ras-related protein Rab-40C	Mus musculus (Mouse)	PR
Q8VHP8	Rab40b	Ras-related protein Rab-40B	Mus musculus (Mouse)	PR
P35289	Rab15	Ras-related protein Rab-15	Rattus norvegicus (Rat)	PR
P35280	Rab8a	Ras-related protein Rab-8A	Rattus norvegicus (Rat)	PR
P70550	Rab8b	Ras-related protein Rab-8B	Rattus norvegicus (Rat)	PR
P35284	Rab12	Ras-related protein Rab-12	Rattus norvegicus (Rat)	PR
P35281	Rab10	Ras-related protein Rab-10	Rattus norvegicus (Rat)	PR
O24466	RABE1A	Ras-related protein RABE1a	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SF91	RABE1E	Ras-related protein RABE1e	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LZD4	RABE1D	Ras-related protein RABE1d	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSALGSPVRA	YDFLLKFLLV	GDSDVGKGEI	LASLQDGAAE	SPYGHPAGID	YKTTTILLDG
70	80	90	100	110	120
RRVKLQLWDT	SGQGRFCTIF	RSYSRGAQGV	ILVYDIANRW	SFDGIDRWIK	EIDEHAPGVP
130	140	150	160	170	180
KILVGNRLHL	AFKRQVPTEQ	AQAYAERLGV	TFFEVSPLCN	FNITESFTEL	ARIVLLRHGM
190	200	210	220	230	240
DRLWRPSKVL	SLQDLCCRAV	VSCTPVHLVD	KLPLPIALRS	HLKSFSMANG	LNARMMHGGS
250	260	270
YSLTTSSTHK	RSSLRKVKLV	RPPQSPPKNC	TRNSCKIS