AiPD: Autoinhibited Protein Database

Q8NHQ8

Gene name	RASSF8 (C12orf2)
Protein name	Ras association domain-containing protein 8
Names	Carcinoma-associated protein HOJ-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11228
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

67-142 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

67-142 (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

2 structures for Q8NHQ8

Entry ID	Method	Resolution	Chain	Position	Source
2CS4	NMR	-	A	1-82	PDB
AF-Q8NHQ8-F1	Predicted				AlphaFoldDB

299 variants for Q8NHQ8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA234198427 rs969210611	4	K>*		No	ClinGen TOPMed
CA384152879 rs1244406206	7	V>M		No	ClinGen gnomAD
CA384152957 rs1341609398	9	G>E		No	ClinGen gnomAD
rs1470039144 CA384153006	11	Q>*		No	ClinGen gnomAD
CA6487339 rs775526124	12	R>K		No	ClinGen ExAC gnomAD
TCGA novel	12	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200486102 CA6487340	13	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA384153099 rs1178100841	15	C>Y		No	ClinGen TOPMed gnomAD
rs768152190 CA6487341	17	V>I		No	ClinGen ExAC gnomAD
CA6487342 rs773737664	22	T>A		No	ClinGen ExAC TOPMed gnomAD
CA384153303 rs1366173854	24	Q>R		No	ClinGen gnomAD
rs202099153 CA384153327 CA234198465	25	E>D		No	ClinGen 1000Genomes TOPMed
rs1285847956 CA384153344	26	V>A		No	ClinGen TOPMed
CA384153338 rs1476138170	26	V>F		No	ClinGen gnomAD
CA384153372 rs1370487976	28	I>V		No	ClinGen TOPMed gnomAD
CA384153443 rs1315157400	31	A>G		No	ClinGen gnomAD
rs1303539035 CA384153456	32	Q>*		No	ClinGen TOPMed
rs767142989 CA6487344	32	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA6487369 rs776858157	35	G>D		No	ClinGen ExAC gnomAD
rs200480939 CA234205153	36	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
TCGA novel	37	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA234205158 rs764293499	37	T>I		No	ClinGen Ensembl
CA384156848 rs1209035416	39	R>S		No	ClinGen TOPMed gnomAD
rs765644592 CA6487371	44	E>Q		No	ClinGen ExAC gnomAD
rs764192034 CA234205179	48	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	49	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384157000 rs1200619925	49	T>S		No	ClinGen gnomAD
rs753283202 CA6487372	51	R>G		No	ClinGen ExAC TOPMed gnomAD
CA384157051 rs1334083810	52	H>R		No	ClinGen TOPMed
CA384157083 rs1195992832	54	A>S		No	ClinGen gnomAD
rs1254209800 CA384157098	55	P>S		No	ClinGen gnomAD
CA6487373 rs368564231	56	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA384157114 rs368564231	56	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6487374 rs34322524	60	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1358697841 CA384157172	61	I>L		No	ClinGen TOPMed
rs751771882 CA6487375	62	S>F		No	ClinGen ExAC gnomAD
CA6487378 rs753561039	67	G>E		No	ClinGen ExAC gnomAD
TCGA novel	67	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384157286 rs1297503009	68	Q>H		No	ClinGen gnomAD
CA384157283 rs1368228357	68	Q>R		No	ClinGen gnomAD
CA6487380 rs757608575	69	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA6487381 rs748139560	70	A>T		No	ClinGen ExAC gnomAD
rs899260358 CA234205231	70	A>V		No	ClinGen TOPMed gnomAD
CA6487382 rs771514563	72	D>G		No	ClinGen ExAC gnomAD
TCGA novel	74	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746592311 CA6487384	78	R>*	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770560181 CA6487385	78	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA384157459 rs1157741952	79	R>*		No	ClinGen TOPMed
rs776398938 CA6487387	79	R>L		No	ClinGen ExAC gnomAD
rs776398938 CA6487386	79	R>Q		No	ClinGen ExAC gnomAD
CA6487390 rs763565395	83	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1028219085 CA234205319	84	L>F		No	ClinGen TOPMed
CA384157533 rs1181676121	85	S>I		No	ClinGen gnomAD
rs1410077079 CA384157554	87	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377200567 CA6487391	87	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165729368 CA384157583	89	T>A		No	ClinGen gnomAD
rs751684073 CA6487392	92	S>G		No	ClinGen ExAC TOPMed gnomAD
rs762041147 CA6487393	92	S>T		No	ClinGen ExAC gnomAD
CA6487394 rs767612302	93	V>E		No	ClinGen ExAC gnomAD
CA6487396 rs553716896	94	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6487395 rs368621900	94	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6487397 rs778784310	95	R>P		No	ClinGen ExAC TOPMed gnomAD
rs778784310 CA6487398	95	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6487399 rs371963534	97	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs746504430 CA6487401	98	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	100	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	100	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384157756 rs1483565331	102	Y>S		No	ClinGen gnomAD
rs1204902750 CA384157779	103	R>S		No	ClinGen gnomAD
CA384157815 rs1591817103	105	S>R		No	ClinGen Ensembl
COSM692689 COSM1146993 rs1439052300 CA384157832	107	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs769991944 CA6487405	108	P>A		No	ClinGen ExAC gnomAD
CA6487406 rs775925832	108	P>L		No	ClinGen ExAC gnomAD
rs769273436 CA6487408	109	L>F		No	ClinGen ExAC gnomAD
rs775047627 CA6487409	110	A>G		No	ClinGen ExAC gnomAD
TCGA novel	110	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6487410 rs528654514	111	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1591817168 CA384157969	116	I>V		No	ClinGen Ensembl
CA6487412 rs750553077	117	D>G		No	ClinGen ExAC gnomAD
rs968443662 CA234205564	118	K>R		No	ClinGen Ensembl
CA6487413 rs760953892	120	I>V		No	ClinGen ExAC TOPMed gnomAD
CA384158077 rs1377752880	123	R>M		No	ClinGen gnomAD
rs974545337 CA234205566	124	E>K		No	ClinGen gnomAD
CA234205575 rs921802664	125	P>L		No	ClinGen TOPMed gnomAD
CA384158108 rs1382016866	126	K>Q		No	ClinGen TOPMed gnomAD
CA6487417 rs763983582	132	F>V		No	ClinGen ExAC
CA384158243 rs1211026688	136	A>V		No	ClinGen gnomAD
CA384158308 rs987432009 CA234205640	140	M>I		No	ClinGen TOPMed gnomAD
CA384158301 rs1437576452	140	M>T		No	ClinGen gnomAD
rs1482278441 CA384158295	140	M>V		No	ClinGen gnomAD
CA6487419 rs751533050	141	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1217108338 CA384158321	141	D>V		No	ClinGen TOPMed
rs1450003709 CA384158328	142	I>V		No	ClinGen gnomAD
CA6487421 rs756676309	146	G>C		No	ClinGen ExAC gnomAD
CA6487420 rs756676309	146	G>S		No	ClinGen ExAC gnomAD
CA234205678 rs148235652	147	K>E		No	ClinGen ESP TOPMed gnomAD
CA6487422 rs745447591	150	E>D		No	ClinGen ExAC gnomAD
CA234205680 rs1038112520	150	E>Q		No	ClinGen TOPMed
CA384158397 rs1291880035	151	F>C		No	ClinGen TOPMed gnomAD
CA234205695 rs201622770	153	Q>*		No	ClinGen Ensembl
rs748704421 CA234205705	154	K>E		No	ClinGen Ensembl
CA234205707 rs750264464	154	K>N		No	ClinGen Ensembl
CA384158423 rs376924444	155	V>L		No	ClinGen ESP TOPMed gnomAD
CA234205712 rs376924444	155	V>M		No	ClinGen ESP TOPMed gnomAD
rs1445101674 CA384158427	156	L>M		No	ClinGen gnomAD
CA384158428 rs1445101674	156	L>V		No	ClinGen gnomAD
CA384158465 rs1290108794	161	T>A		No	ClinGen gnomAD
rs1046609 CA6487424	162	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1046609 CA234205744	162	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749649289 CA6487425	164	D>Y		No	ClinGen ExAC gnomAD
rs1401032239 CA384158511	168	K>E		No	ClinGen TOPMed
CA6487427 rs146204306	171	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs78627144 CA6487428	171	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384158542 rs1310650389	173	Q>P		No	ClinGen gnomAD
CA234205798 rs892722443	174	T>A		No	ClinGen Ensembl
CA384158549 rs1218294841	174	T>K		No	ClinGen gnomAD
CA384158567 rs1187799925	176	K>N		No	ClinGen gnomAD
CA6487431 rs760721677	177	L>I		No	ClinGen ExAC gnomAD
CA234205832 rs935393108	180	I>V		No	ClinGen TOPMed gnomAD
rs766598221 CA6487432	181	E>A		No	ClinGen ExAC gnomAD
CA384158603 rs1426624276	182	K>T		No	ClinGen TOPMed
rs1412366947 CA384158621	185	E>*		No	ClinGen gnomAD
rs1412366947 CA384158623	185	E>K		No	ClinGen gnomAD
rs200253155 CA6487433	189	I>T		No	ClinGen ExAC gnomAD
rs1422882158 CA384158652	189	I>V		No	ClinGen TOPMed
CA384158666 rs1194091986	191	I>V		No	ClinGen TOPMed
TCGA novel	194	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478715551 CA384158688	194	W>G		No	ClinGen TOPMed
CA384158696 rs1388659862	195	E>K		No	ClinGen gnomAD
CA384158712 rs1433753772	197	K>Q		No	ClinGen gnomAD
CA384158724 rs1319051527	198	Y>C		No	ClinGen gnomAD
CA384158740 rs543199779	200	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6487435 rs543199779	200	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs532467947 CA6487437	201	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142384931 CA6487436	201	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA234205891 rs996164910	203	E>D		No	ClinGen TOPMed
CA384158753 rs145936448	203	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000885791 CA6487439 rs145936448	203	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs552043807 CA234205892	205	E>Q		No	ClinGen Ensembl
rs755629253 CA6487441	206	I>F		No	ClinGen ExAC gnomAD
rs748980703 CA6487442	206	I>T		No	ClinGen ExAC gnomAD
rs755629253 CA6487440	206	I>V		No	ClinGen ExAC gnomAD
CA384158780 rs1487871444	207	V>F		No	ClinGen gnomAD
COSM184058 rs1028664607 CA234205905	208	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6487443 RCV000910208 rs117015558	208	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1028766859 CA234205942	213	I>S		No	ClinGen Ensembl
CA6487444 rs779423790	215	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6487445 CA384158842 rs748526616	216	N>K		No	ClinGen ExAC TOPMed gnomAD
rs954524624 CA234205961	216	N>S		No	ClinGen Ensembl
rs747076960 CA6487448 CA6487449	217	D>E		No	ClinGen ExAC TOPMed gnomAD
rs773637846 CA6487447	217	D>N		No	ClinGen ExAC gnomAD
CA6487452 rs79831720	218	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6487451 rs186709341	218	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1379483728 CA384158853	219	E>Q		No	ClinGen TOPMed
rs145358914 CA384158874	221	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	221	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	222	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384158875 rs1399444612	222	E>K		No	ClinGen TOPMed
CA384158886 rs1406430307	223	E>A		No	ClinGen gnomAD
CA384158889 rs761572605	223	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	225	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767468883 CA6487455	227	E>A		No	ClinGen ExAC gnomAD
CA6487457 rs370513313	230	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs766000716 CA6487458	231	Q>R		No	ClinGen ExAC gnomAD
rs1186601699 CA384159030	233	E>K		No	ClinGen TOPMed
CA384159122 rs1425535488	238	K>N		No	ClinGen gnomAD
CA384159147 rs1423420895	241	K>E		No	ClinGen TOPMed
rs753473586 CA6487459	244	L>R		No	ClinGen ExAC gnomAD
rs1210304675 CA604477888	246	E>G		No	ClinGen gnomAD
rs1289097017 CA384159226	246	E>G		No	ClinGen gnomAD
CA384159235 rs1449588551	247	I>V		No	ClinGen gnomAD
rs374924049 CA384159563	248	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6487460 rs374924049	248	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs374924049 CA6487461	248	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472057591 CA384159571	249	Q>R		No	ClinGen gnomAD
rs753080743 CA6487462	252	T>A		No	ClinGen ExAC gnomAD
rs758727545 CA6487463	252	T>I		No	ClinGen ExAC gnomAD
CA6487464 rs778299936	254	C>R		No	ClinGen ExAC gnomAD
rs1368036029 CA384159607	254	C>W		No	ClinGen TOPMed gnomAD
rs1431956668 CA384159633	258	L>V		No	ClinGen gnomAD
rs1309009217 CA384159656	261	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6487467 rs770944339	262	L>F		No	ClinGen ExAC gnomAD
TCGA novel	265	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6487469 rs140972036	266	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6487468 rs370237788	266	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6487472 rs761639412	268	M>I		No	ClinGen ExAC gnomAD
rs368642070 CA384159703	268	M>R		No	ClinGen ESP ExAC TOPMed
CA6487471 rs368642070	268	M>T		No	ClinGen ESP ExAC TOPMed
rs771795123 CA6487473	269	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773153215 CA6487474	270	S>G		No	ClinGen ExAC gnomAD
rs990461990 CA234206099	271	G>D		No	ClinGen TOPMed
CA234206104 rs916857430	274	A>T		No	ClinGen TOPMed gnomAD
rs1314500391 CA384159753	276	K>E		No	ClinGen TOPMed
CA6487476 RCV000906164 rs76879660	279	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6487475 rs760534449	279	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs928051263 CA234206117	281	V>D		No	ClinGen Ensembl
rs374161291 CA6487477	282	Q>K		No	ClinGen ESP ExAC gnomAD
CA6487479 rs764949312	284	A>G		No	ClinGen ExAC gnomAD
TCGA novel	285	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6487481 rs758737224	287	N>S		No	ClinGen ExAC TOPMed gnomAD
rs752040523 CA6487483	290	E>K		No	ClinGen ExAC gnomAD
rs781709277 CA6487485	291	V>I		No	ClinGen ExAC gnomAD
rs368076388 CA6487488	293	G>A		No	ClinGen ESP ExAC gnomAD
CA6487487 rs553538978	293	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs371542174 CA6487489	294	K>R		No	ClinGen ESP ExAC gnomAD
rs770968174 CA6487493	296	G>A		No	ClinGen ExAC gnomAD
CA6487492 rs141635296	296	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6487491 rs141635296	296	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1224976481 CA384159897	298	V>I		No	ClinGen gnomAD
rs1345268905 CA384159911	300	G>R		No	ClinGen TOPMed gnomAD
CA6487496 rs764671781	301	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6487497 rs775146629	302	I>M		No	ClinGen ExAC TOPMed gnomAD
CA384159925 rs1259384528	302	I>V		No	ClinGen gnomAD
CA234206341 rs536269931	303	D>N		No	ClinGen Ensembl
rs1197595935 CA384159933	303	D>V		No	ClinGen gnomAD
CA6487498 rs201342577	304	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6487499 rs763877550	306	G>D		No	ClinGen ExAC gnomAD
CA384159951 rs1591818114	306	G>S		No	ClinGen Ensembl
rs1489048181 CA384159957	307	Q>E		No	ClinGen TOPMed
CA384159962 rs1247951390 CA384159963	307	Q>H		No	ClinGen TOPMed gnomAD
CA384159961 rs1484108156	307	Q>P		No	ClinGen gnomAD
CA384159971 rs1447978658	308	Q>H		No	ClinGen gnomAD
rs1180101688 CA384159977	309	S>N		No	ClinGen gnomAD
rs767981651 CA6487502 CA384159989	311	R>S		No	ClinGen ExAC TOPMed gnomAD
rs757670135 CA6487501	311	R>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	314	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	318	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs889731821 CA234206403	319	V>M		No	ClinGen TOPMed
CA384160046 rs1457865319	320	E>Q		No	ClinGen gnomAD
CA6487505 rs756137694	321	R>G		No	ClinGen ExAC gnomAD
rs890213817 CA234206426	321	R>T		No	ClinGen TOPMed gnomAD
rs780011967 CA6487506	322	S>F		No	ClinGen ExAC gnomAD
CA384160085 rs1303132121	326	A>T		No	ClinGen gnomAD
CA384160092 rs1172940735	327	T>N		No	ClinGen TOPMed gnomAD
rs749450984 CA6487507	328	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6487508 COSM1511766 rs746967473 COSM1511767	329	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6487509 rs779243123	329	R>H		No	ClinGen ExAC gnomAD
rs779243123 CA384160104	329	R>L		No	ClinGen ExAC gnomAD
CA384160115 rs1418053996	331	Q>*		No	ClinGen TOPMed
CA384160117 rs1208822149	331	Q>R		No	ClinGen gnomAD
CA384160692 rs1425662063	333	K>R		No	ClinGen TOPMed gnomAD
CA384160728 rs1325588318	335	Q>R		No	ClinGen TOPMed
rs1368996900 CA384160778	338	E>D		No	ClinGen gnomAD
CA6487523 rs750872295	338	E>G		No	ClinGen ExAC gnomAD
TCGA novel	341	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	344	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756607785 CA384160863	345	R>G		No	ClinGen ExAC gnomAD
CA6487525 rs766968005	345	R>Q		No	ClinGen ExAC gnomAD
rs756607785 COSM1146999 CA6487524 COSM692683	345	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6487526 rs780977356	348	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1384351007 CA384160910	350	Q>P		No	ClinGen TOPMed
CA384160915 rs1591820557	351	Q>K		No	ClinGen Ensembl
rs755124997 CA6487527	351	Q>R		No	ClinGen ExAC gnomAD
CA6487528 rs778959849	354	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	358	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6487530 rs757057125	359	K>T		No	ClinGen ExAC TOPMed gnomAD
CA384160983 rs1427589953	361	T>P		No	ClinGen TOPMed
rs745727954 CA6487532	362	V>I		No	ClinGen ExAC TOPMed gnomAD
CA234208062 rs866772127	364	P>S		No	ClinGen gnomAD
rs140885233 CA6487534	365	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs943043593 CA234208070	366	E>V		No	ClinGen TOPMed gnomAD
CA384161020 rs1161645863	367	P>A		No	ClinGen TOPMed gnomAD
rs1262249224 CA384161028	368	I>S		No	ClinGen TOPMed
rs773945447 CA6487537	368	I>V		No	ClinGen ExAC gnomAD
rs199895299 CA6487538	370	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA234208129 rs773551078	375	A>G		No	ClinGen ExAC gnomAD
CA6487540 rs773551078	375	A>V		No	ClinGen ExAC gnomAD
CA6487541 rs761150690	376	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6487542 rs761150690	376	D>V		No	ClinGen ExAC TOPMed gnomAD
CA6487544 rs759482023	378	E>G		No	ClinGen ExAC gnomAD
CA234209070 rs900975985	381	A>T		No	ClinGen TOPMed gnomAD
rs998045370 CA234209089	383	F>S		No	ClinGen Ensembl
rs1219984805 CA384161146	384	Q>R		No	ClinGen gnomAD
CA384161155 rs1321422120	385	S>F		No	ClinGen gnomAD
CA6487559 rs771690251	386	G>W		No	ClinGen ExAC gnomAD
CA6487560 rs74071689	388	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384161180 rs1240124038	390	R>*		No	ClinGen TOPMed gnomAD
rs1005555125 CA234209104	390	R>Q		No	ClinGen TOPMed gnomAD
CA384161192 rs1191377421	392	G>D		No	ClinGen gnomAD
rs997342967 CA234209123	395	R>Q		No	ClinGen TOPMed gnomAD
rs370277680 COSM1188452 CA6487561	395	R>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1051596240 CA234209124	397	L>F		No	ClinGen TOPMed
CA384161228 rs1160732226	398	P>L		No	ClinGen gnomAD
TCGA novel	398	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384161230 rs1388780954	399	S>C		No	ClinGen gnomAD
CA384161229 rs1388780954	399	S>G		No	ClinGen gnomAD
rs539949229 CA6487562	400	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6487563 rs776942032	402	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs558188232 CA234209161	403	I>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs760088159 CA6487564	403	I>V		No	ClinGen ExAC TOPMed gnomAD
CA384161269 rs1300384443	405	Q>R		No	ClinGen gnomAD
rs1403981406 CA384161285	407	P>R		No	ClinGen TOPMed
CA234209189 rs573180633	408	I>M		No	ClinGen 1000Genomes gnomAD
CA234209183 rs1001163046	408	I>T		No	ClinGen TOPMed
rs971938908 CA234209181	408	I>V		No	ClinGen Ensembl
CA384161351 rs1230539060	417	I>M		No	ClinGen gnomAD
CA6487565 rs765908597	418	Y>F		No	ClinGen ExAC gnomAD
rs1218780769 CA384161361	419	V>L		No	ClinGen gnomAD
CA384161371 rs1328643145	420	V>C		No	ClinGen gnomAD

1 associated diseases with Q8NHQ8

Without disease ID

1 regional properties for Q8NHQ8

Type	Name	Position	InterPro Accession
domain	Ras-associating domain	1 - 82	IPR000159

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MELKVWVDGV	QRIVCGVTEV	TTCQEVVIAL	AQAIGRTGRY	TLIEKWRDTE	RHLAPHENPI
70	80	90	100	110	120
ISLNKWGQYA	SDVQLILRRT	GPSLSERPTS	DSVARIPERT	LYRQSLPPLA	KLRPQIDKSI
130	140	150	160	170	180
KRREPKRKSL	TFTGGAKGLM	DIFGKGKETE	FKQKVLNNCK	TTADELKKLI	RLQTEKLQSI
190	200	210	220	230	240
EKQLESNEIE	IRFWEQKYNS	NLEEEIVRLE	QKIKRNDVEI	EEEEFWENEL	QIEQENEKQL
250	260	270	280	290	300
KDQLQEIRQK	ITECENKLKD	YLAQIRTMES	GLEAEKLQRE	VQEAQVNEEE	VKGKIGKVKG
310	320	330	340	350	360
EIDIQGQQSL	RLENGIKAVE	RSLGQATKRL	QDKEQELEQL	TKELRQVNLQ	QFIQQTGTKV
370	380	390	400	410
TVLPAEPIEI	EASHADIERE	APFQSGSLKR	PGSSRQLPSN	LRILQNPISS	GFNPEGIYV