AiPD: Autoinhibited Protein Database

Q9NS23

Gene name	RASSF1
Protein name	Ras association domain-containing protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11186
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-75 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-75 (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 Q9NS23

Entry ID	Method	Resolution	Chain	Position	Source
2KZU	NMR	-	B	-	PDB
AF-Q9NS23-F1	Predicted				AlphaFoldDB

346 variants for Q9NS23

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1433266762 CA352933086	2	S>L		No	ClinGen TOPMed
CA352933071 rs1371439196	3	G>R		No	ClinGen TOPMed
CA352933064 rs1371439196	3	G>W		No	ClinGen TOPMed
TCGA novel	4	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA74629721 rs1032349461	4	E>K		No	ClinGen TOPMed
rs936985611 CA74629718	5	P>T		No	ClinGen TOPMed
CA352933014 rs1575550919	6	E>Q		No	ClinGen Ensembl
rs771644513 CA74629708	7	L>F		No	ClinGen gnomAD
CA352932935 rs1336006640	8	I>T		No	ClinGen gnomAD
rs1453214235 CA352932928	9	E>K		No	ClinGen TOPMed gnomAD
rs1575550898 CA352932891	10	L>R		No	ClinGen Ensembl
rs1408465410 CA352932845	11	R>P		No	ClinGen TOPMed gnomAD
rs765311131 CA2416898	12	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1461710331 CA352932775	14	A>T		No	ClinGen gnomAD
rs1410320504 CA352932763	14	A>V		No	ClinGen gnomAD
CA352932725 rs1355316638	15	P>H		No	ClinGen gnomAD
rs1172746029 CA352932711	16	A>T		No	ClinGen gnomAD
rs587718484 CA2416897	17	G>A		No	ClinGen 1000Genomes ExAC
rs1384932859 CA352932669	18	R>C		No	ClinGen gnomAD
CA352932668 rs1025552516	18	R>H		No	ClinGen TOPMed
CA74629685 rs1025552516	18	R>P		No	ClinGen TOPMed
CA2416895 rs764358414	19	A>S		No	ClinGen ExAC gnomAD
rs1446966285 CA352932643	20	G>R		No	ClinGen gnomAD
VAR_019542 CA2416894 rs4688725	21	K>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775884901 CA352932585	23	R>C		No	ClinGen ExAC gnomAD
rs775884901 CA2416893	23	R>G		No	ClinGen ExAC gnomAD
CA2416892 rs112677709	23	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs112677709 CA74629661	23	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352932560 rs1319718667	24	T>N		No	ClinGen gnomAD
rs1319718667 CA352932563	24	T>S		No	ClinGen gnomAD
rs1314095907 CA352932556	25	R>W		No	ClinGen gnomAD
CA74629654 rs113564827	26	L>P		No	ClinGen Ensembl
CA2416890 rs587708504	28	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2416889 rs587708504	28	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2416888 rs201983107	28	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA74629602 rs201983107	28	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs587708504 CA2416891	28	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2416886 rs768248954	29	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2416885 rs587717253	31	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1300123852 CA352932357	33	R>G		No	ClinGen gnomAD
rs587675007 CA74629582	33	R>H		No	ClinGen 1000Genomes gnomAD
CA352932343 rs1409733004	34	I>L		No	ClinGen TOPMed
rs1365416749 CA352932289	35	A>E		No	ClinGen gnomAD
CA352932247 rs1427689811	36	R>L		No	ClinGen TOPMed gnomAD
rs1458486668 CA352932210	37	G>V		No	ClinGen TOPMed
rs1418003690 CA352932209	38	T>A		No	ClinGen gnomAD
CA74629560 rs925362839	39	A>S		No	ClinGen TOPMed gnomAD
CA352932181 rs925362839	39	A>T		No	ClinGen TOPMed gnomAD
CA74629557 rs976301428	43	T>I		No	ClinGen Ensembl
rs1290817625 CA352932030	44	R>G		No	ClinGen gnomAD
rs945902087 CA352932021	44	R>L		No	ClinGen TOPMed gnomAD
CA74629552 rs945902087	44	R>Q		No	ClinGen TOPMed gnomAD
CA352932027 rs1290817625	44	R>W		No	ClinGen gnomAD
rs587719322 CA2416880	45	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA352931975 rs753924873	45	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2416879 rs757277990	45	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2416877 rs61758759	47	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352931860 rs1385348057	49	G>S		No	ClinGen gnomAD
CA2416875 rs752841250	50	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1358949790 CA352931795	51	G>D		No	ClinGen gnomAD
CA2416874 rs767839510	51	G>S		No	ClinGen ExAC gnomAD
CA352931778 rs1454751478	52	H>L		No	ClinGen gnomAD
rs1363944957 CA352931774	52	H>Q		No	ClinGen gnomAD
rs1454751478 CA352931785	52	H>R		No	ClinGen gnomAD
CA2416873 rs201618726 VAR_019543	53	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201618726 CA352931763	53	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1479281459 CA352931688	55	Q>H		No	ClinGen gnomAD
CA352931679 rs1267763730	56	P>S		No	ClinGen gnomAD
CA352931656 rs1199648606	57	A>T		No	ClinGen gnomAD
CA352931643 rs1490781910	57	A>V		No	ClinGen gnomAD
rs980808179 CA74629525	58	G>R		No	ClinGen TOPMed gnomAD
CA2416871 rs766813648	61	T>M		No	ClinGen ExAC gnomAD
CA74629514 rs587735409	63	T>R		No	ClinGen 1000Genomes
CA352931474 rs1575550544	64	W>*		No	ClinGen Ensembl
CA352931465 rs1225519501	64	W>*		No	ClinGen gnomAD
TCGA novel	66	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs969861599 CA352931401	67	L>F		No	ClinGen gnomAD
CA74629507 rs969861599	67	L>I		No	ClinGen gnomAD
rs768120370 CA2416868	70	D>N		No	ClinGen ExAC TOPMed gnomAD
CA352931297 rs1387759514	71	F>L		No	ClinGen gnomAD
CA352931253 rs1467775708	73	W>R		No	ClinGen TOPMed gnomAD
rs774989782 CA2416866	74	G>S		No	ClinGen ExAC gnomAD
rs868486184 CA74629493	75	V>A		No	ClinGen Ensembl
CA2416864 rs745594206	76	V>L		No	ClinGen ExAC gnomAD
rs745594206 CA2416863	76	V>M		No	ClinGen ExAC gnomAD
CA2416862 rs778876938	77	R>C		No	ClinGen ExAC TOPMed gnomAD
CA74629485 rs897966232	79	G>S		No	ClinGen TOPMed gnomAD
rs757224875 CA2416861	79	G>V		No	ClinGen ExAC gnomAD
rs1321148050 CA352931049	83	A>T		No	ClinGen TOPMed
rs1263807402 CA352931017	84	R>G		No	ClinGen TOPMed gnomAD
rs745569978 CA2416844	84	R>H		No	ClinGen ExAC gnomAD
CA352931020 rs1263807402	84	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	85	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352928525 rs1410163185	88	D>G		No	ClinGen gnomAD
CA2416842 rs770828993	89	C>*		No	ClinGen ExAC gnomAD
CA352928510 rs774186753	89	C>S		No	ClinGen ExAC TOPMed gnomAD
CA2416843 rs774186753	89	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA2416839 rs769773799	90	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2416841 rs749155440	90	K>R		No	ClinGen ExAC gnomAD
CA2416838 rs748117727	91	F>S		No	ClinGen ExAC gnomAD
CA2416837 rs781352974	92	T>P		No	ClinGen ExAC TOPMed gnomAD
rs755115735 CA2416836	92	T>S		No	ClinGen ExAC gnomAD
CA352928414 rs1439777003	93	C>S		No	ClinGen TOPMed gnomAD
rs1439777003 COSM1424175 CA352928413	93	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1222238980 CA352928336	96	R>H		No	ClinGen gnomAD
rs751745768 CA352928307	97	C>F		No	ClinGen ExAC TOPMed gnomAD
CA2416835 rs751745768	97	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1347986655 CA352928286	98	R>L		No	ClinGen gnomAD
rs1442572711 CA352928264	99	A>G		No	ClinGen gnomAD
CA352928281 rs1575547498	99	A>P		No	ClinGen Ensembl
CA352928168 rs1300835180	104	D>H		No	ClinGen gnomAD
CA352928170 rs1300835180	104	D>N		No	ClinGen gnomAD
rs758746442 CA2416833	105	C>R		No	ClinGen ExAC gnomAD
CA2416832 rs750851698	105	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs778017552 CA352928079	106	C>*		No	ClinGen ExAC TOPMed gnomAD
CA2416830 rs762407624	107	G>R		No	ClinGen ExAC gnomAD
CA352928044 rs1471169446	108	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752113150 CA2416829	109	R>Q		No	ClinGen ExAC gnomAD
CA352928028 rs1249435415	109	R>W		No	ClinGen gnomAD
rs759167141 CA2416827	110	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774135288 CA352927995	111	L>P		No	ClinGen ExAC gnomAD
rs774135288 CA2416826	111	L>Q		No	ClinGen ExAC gnomAD
CA352927977 rs1214328612	112	G>D		No	ClinGen TOPMed gnomAD
CA352927980 rs1239097434	112	G>S		No	ClinGen TOPMed
rs770776005 CA2416825	115	P>R		No	ClinGen ExAC gnomAD
CA352927893 rs1349646838	115	P>S		No	ClinGen TOPMed
CA74625609 rs931043607	116	A>T		No	ClinGen TOPMed
CA352927871 rs1223864669	116	A>V		No	ClinGen gnomAD
rs773071415 CA2416823	117	V>E		No	ClinGen ExAC gnomAD
CA352927865 rs1281010570	117	V>M		No	ClinGen gnomAD
CA352927845 rs1559845898	118	E>G		No	ClinGen Ensembl
CA352927822 rs1295034740	119	R>Q		No	ClinGen TOPMed gnomAD
CA352927810 rs1240510659	120	D>V		No	ClinGen TOPMed
rs748147526 CA2416821	121	T>A		No	ClinGen ExAC gnomAD
TCGA novel	121	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559845883 CA352927768	121	T>M		No	ClinGen Ensembl
CA352927760 rs1458916688	122	N>D		No	ClinGen gnomAD
rs200466395 CA2416819	122	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867844322 CA74625576	123	V>M		No	ClinGen Ensembl
CA2416713 rs775856929	124	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA74620816 rs775856929	124	D>E		No	ClinGen ExAC gnomAD
CA352925638 rs1466210354	124	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352925628 rs1352139058	125	E>K		No	ClinGen TOPMed gnomAD
rs1352139058 CA352925626	125	E>Q		No	ClinGen TOPMed gnomAD
rs1281135624 CA352925617	126	P>T		No	ClinGen gnomAD
rs587742681 CA2416710	129	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA352925577 rs1418448364	129	W>S		No	ClinGen TOPMed
rs769398598 CA2416709	131	T>I		No	ClinGen ExAC gnomAD
TCGA novel	131	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs587668318 CA2416708	132	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs76335415 CA2416707 VAR_019544	133	D>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs934370004 CA74620794 VAR_019545	135	S>F	prevents G1 cell cycle arrest; reduced protein phosphorylation [UniProt]	No	ClinGen UniProt TOPMed dbSNP
CA2416704 rs149757510	137	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2416703 rs149757510	137	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2416705 rs2073498 VAR_019546	137	A>S	prevents G1 cell cycle arrest; reduced protein phosphorylation [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA352925453 rs1279080373	138	E>K		No	ClinGen TOPMed
CA2416701 rs141347972	139	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs141347972 CA2416700	139	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559841253 CA352925416	140	E>K		No	ClinGen Ensembl
CA2416699 rs753994734	141	Q>E		No	ClinGen ExAC gnomAD
CA352925376 rs1485268365	142	K>N		No	ClinGen TOPMed
rs904810243 CA74620722	144	K>R		No	ClinGen gnomAD
rs1042704472 CA74620699	145	E>K		No	ClinGen Ensembl
rs1012572706 CA74620686	146	Y>N		No	ClinGen Ensembl
rs1208552577 CA352925295	147	N>S		No	ClinGen TOPMed
CA2416696 rs775940249	148	A>P		No	ClinGen ExAC TOPMed gnomAD
CA74620675 rs1056845070	149	Q>E		No	ClinGen Ensembl
CA352925247 rs1180605835	149	Q>H		No	ClinGen TOPMed
CA74620643 COSM1318658 rs767866558 COSM1318659	154	L>F	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767866558 CA2416695	154	L>V		No	ClinGen ExAC gnomAD
CA352924157 rs1170982738	159	N>Y		No	ClinGen TOPMed gnomAD
CA352924101 rs200807174	161	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA74619041 rs895737515	161	D>N		No	ClinGen TOPMed
rs587713967 CA2416666	162	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1226425082 CA352924071	163	S>C		No	ClinGen TOPMed
rs778928029 CA2416665	164	Y>*		No	ClinGen ExAC gnomAD
rs771007006 CA2416664	165	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1575540521 CA352924041	165	T>I		No	ClinGen Ensembl
rs902914352 CA74618980	172	L>P		No	ClinGen TOPMed gnomAD
CA352923918 rs902914352	172	L>R		No	ClinGen TOPMed gnomAD
rs1174004455 CA352923903	174	L>M		No	ClinGen gnomAD
CA2416662 rs777944330	174	L>R		No	ClinGen ExAC TOPMed gnomAD
rs755328282 CA2416658	175	V>A		No	ClinGen ExAC gnomAD
rs781447430 CA352923889 CA2416659	175	V>L		No	ClinGen ExAC TOPMed gnomAD
rs140859290 CA2416657 COSM1223248 COSM1223249	176	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2416656 rs754918686	176	R>H		No	ClinGen ExAC gnomAD
CA2416654 rs753247602	177	P>L		No	ClinGen ExAC gnomAD
rs1192994114 CA352923853	178	V>D		No	ClinGen TOPMed
CA352923854 rs1158404557	178	V>F		No	ClinGen gnomAD
rs587774276 CA2416653	180	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2416652 rs145226348	186	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs775278958 CA74618916	187	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2416651 rs775278958	187	P>R		No	ClinGen ExAC TOPMed gnomAD
CA74618921 rs1013125746	187	P>S		No	ClinGen Ensembl
CA2416650 rs771857382	188	S>F		No	ClinGen ExAC gnomAD
CA352923657 rs1423825048	192	A>G		No	ClinGen gnomAD
CA2416648 rs751478417	193	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751478417 CA2416647	193	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2416649 rs202189473	193	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1252234821 CA352923638	194	R>Q		No	ClinGen TOPMed gnomAD
rs139239459 CA2416646	194	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2416645 rs199896247	195	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1207292655 CA352923633	195	G>S		No	ClinGen gnomAD
rs142284228 CA2416643	198	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1222407463 CA352923595	198	R>W		No	ClinGen gnomAD
rs781320630 CA2416642	200	T>P		No	ClinGen ExAC TOPMed gnomAD
rs374102598 CA2416641	201	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs146138020 CA2416640	204	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs761354693 CA2416639	204	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750917798 CA2416637	205	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765732442 CA2416636	205	R>H		No	ClinGen ExAC TOPMed gnomAD
CA74618831 rs766149729	207	S>F		No	ClinGen Ensembl
rs755586210 CA2416635	211	P>L		No	ClinGen ExAC gnomAD
CA352923356 rs1205031390	213	D>G		No	ClinGen TOPMed
CA2416632 rs368978863	215	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA352923333 rs1349110261	216	K>R		No	ClinGen gnomAD
CA352923298 rs1184094026	219	H>P		No	ClinGen TOPMed gnomAD
rs931099450 CA74618752	219	H>Y		No	ClinGen Ensembl
COSM1424173 rs376674291 COSM1424174 CA2416629	223	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2416630 rs376674291	223	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266625363 CA352923262	223	R>H		No	ClinGen gnomAD
rs376674291 CA352923264	223	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs773194065 CA2416628	224	T>S		No	ClinGen ExAC TOPMed gnomAD
CA74618697 rs372419673	225	R>K		No	ClinGen ESP TOPMed gnomAD
CA2416627 rs769620757	225	R>S		No	ClinGen ExAC gnomAD
rs1208415127 CA352923244	226	A>V		No	ClinGen gnomAD
COSM1046489 COSM1046488 CA74618682 rs898332991	227	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2416626 rs587769866	227	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA352923240 rs587769866	227	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768826036 CA2416624	230	I>F		No	ClinGen ExAC TOPMed gnomAD
rs747201123 CA2416623	230	I>T		No	ClinGen ExAC gnomAD
CA352923216 rs1389001294	231	E>K		No	ClinGen gnomAD
rs1369191272 CA352923193	232	A>V		No	ClinGen gnomAD
CA2416621 rs758776114	235	R>*		No	ClinGen ExAC gnomAD
rs148222115 CA2416619	235	R>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1464376506 CA352923148	236	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1223247 rs1376828854 CA352923134 COSM1223246	237	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2416617 rs779420168	239	V>A		No	ClinGen ExAC TOPMed gnomAD
rs376980102 CA352923046	242	D>E		No	ClinGen ESP ExAC gnomAD
rs987897575 CA74618559	243	P>R		No	ClinGen Ensembl
CA2416614 rs587768710	243	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352923040 rs587768710	243	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2416613 rs754586222	244	R>C		No	ClinGen ExAC gnomAD
rs751246285 CA2416612 COSM1223243 COSM1223244	244	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2416610 rs762740435	248	L>F		No	ClinGen ExAC gnomAD
CA2416608 rs750547621	250	E>D		No	ClinGen ExAC TOPMed gnomAD
rs371996642 CA2416609	250	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2416607 rs765169337	251	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201825402 CA2416606	251	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352922903 rs201825402	251	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375827524 CA2416604	252	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs747148071 CA2416603	252	A>V		No	ClinGen ExAC gnomAD
rs367633265 CA2416600	254	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2416599 rs746197371	254	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352922802 rs55833676	255	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757683708 CA74618389	256	G>C		No	ClinGen ExAC gnomAD
CA2416597 rs757683708	256	G>S		No	ClinGen ExAC gnomAD
rs999093569 CA74618387	258	V>M		No	ClinGen TOPMed
CA2416578 rs778353951	260	L>V		No	ClinGen ExAC gnomAD
rs146926693 CA2416577	261	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs150999288 CA352922652	261	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2416576 rs150999288	261	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352922656 rs146926693	261	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs779459347 CA2416575	262	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1575539712 CA352922595	264	L>W		No	ClinGen Ensembl
rs1354980848 CA352922588	265	D>N		No	ClinGen gnomAD
CA352922566 rs1575539673	266	D>E		No	ClinGen Ensembl
CA2416574 rs757965655	266	D>N		No	ClinGen ExAC gnomAD
CA2416573 rs750020561	266	D>V		No	ClinGen ExAC gnomAD
rs778684491 CA2416572	268	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	269	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2416569 rs587739605	271	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
COSM76176 rs140805123 CA2416570	271	R>W	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2416567 rs112345333	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2416568 rs376489934	273	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs752722747 CA2416566	274	L>V		No	ClinGen ExAC gnomAD
rs1575539593 CA352922453	275	L>P		No	ClinGen Ensembl
CA352922436 rs1455839224	276	A>V		No	ClinGen gnomAD
CA352922420 rs1559840018	278	P>A		No	ClinGen Ensembl
CA352922412 rs1428304481	278	P>L		No	ClinGen gnomAD
rs891078599 CA74618121	279	S>G		No	ClinGen Ensembl
rs1575539541 CA352922396	279	S>R		No	ClinGen Ensembl
CA352922373 rs1274798133	281	K>E		No	ClinGen TOPMed
CA2416564 rs759722119	282	A>P		No	ClinGen ExAC gnomAD
CA352922345 rs759722119	282	A>S		No	ClinGen ExAC gnomAD
CA352922347 rs759722119	282	A>T		No	ClinGen ExAC gnomAD
rs1366025156 CA352922332	282	A>V		No	ClinGen TOPMed
rs11914848 CA2416563	283	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773729365 CA2416560	287	L>P		No	ClinGen ExAC TOPMed gnomAD
rs773729365 CA352922207	287	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA352922184 rs1326660907	288	K>R		No	ClinGen gnomAD
CA352922175 rs1267027748	289	E>K		No	ClinGen gnomAD
CA2416559 rs770381735	290	N>D		No	ClinGen ExAC gnomAD
TCGA novel	291	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748569436 CA2416558	291	D>N		No	ClinGen ExAC gnomAD
rs866082284 CA74618098	292	S>F		No	ClinGen Ensembl
rs1331819423 CA352922039	293	G>A		No	ClinGen gnomAD
CA74618094 rs747510813	293	G>R		No	ClinGen gnomAD
rs1553718329 CA2416555	294	E>A		No	ClinGen Ensembl
rs1468985677 CA352922021	294	E>K		No	ClinGen TOPMed
rs776701982	294	E>R	Variant assessed as Somatic; 0.0002815 impact. [NCI-TCGA]	No	NCI-TCGA
CA2416554 rs771467890	295	V>A		No	ClinGen ExAC TOPMed gnomAD
rs771467890 CA352921981	295	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	296	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781878345 CA2416533	297	W>C		No	ClinGen ExAC gnomAD
rs782164646 CA2416531	299	A>T		No	ClinGen ExAC TOPMed gnomAD
rs587691207 CA74617539	301	S>R		No	ClinGen 1000Genomes
rs781795807 CA2416530	303	P>L		No	ClinGen ExAC TOPMed gnomAD
rs781795807 CA352921628	303	P>R		No	ClinGen ExAC TOPMed gnomAD
CA352921539 rs782713373	306	H>L		No	ClinGen ExAC TOPMed gnomAD
rs782713373 CA2416529	306	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1553718199 CA352921551	306	H>Y		No	ClinGen gnomAD
CA2416527 rs369888153 COSM1046487 COSM1046486	310	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs782370855 CA2416526	310	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2416523 rs142957899	314	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782017755 CA2416524	314	R>W		No	ClinGen ExAC gnomAD
rs782174686 CA2416522	319	H>N		No	ClinGen ExAC TOPMed
rs12488879 CA352921193	319	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs12488879 CA2416521 VAR_059794	319	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782174686 CA352921196	319	H>Y		No	ClinGen ExAC TOPMed
CA352921125 rs1384988139	321	R>C		No	ClinGen TOPMed gnomAD
rs1384988139 CA352921130	321	R>G		No	ClinGen TOPMed gnomAD
CA2416519 rs587734511	321	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352921008 rs1340931908	325	Q>R		No	ClinGen TOPMed gnomAD
rs1575538523 CA352920981	327	Y>S		No	ClinGen Ensembl
rs782655006 CA2416518 VAR_019547	329	Y>C		No	ClinGen UniProt ExAC TOPMed dbSNP
CA74617467 rs528963906	329	Y>D		No	ClinGen Ensembl
CA2416516 rs587680625	331	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2416515 rs587623233	331	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352920878 rs587623233	331	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352920863 rs1264326766	332	Q>*		No	ClinGen TOPMed
CA2416514 rs782473316	333	K>N		No	ClinGen ExAC gnomAD
rs781828303 CA2416513	335	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2416511 rs782490758	336	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2416510 rs781865726	337	A>D		No	ClinGen ExAC gnomAD
CA2416509 rs587758315	338	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA2416508 rs782164050	339	H>D		No	ClinGen ExAC gnomAD
rs782706060 CA352920718	340	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2416506 rs782706060	340	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2416505 rs782099612	340	A>V		No	ClinGen ExAC TOPMed gnomAD
rs781985002 CA2416504	341	C>R		No	ClinGen ExAC gnomAD
TCGA novel	341	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782395944 CA2416503	342	P>A		No	ClinGen ExAC gnomAD
rs782040632 CA2416501	343	L>P		No	ClinGen ExAC TOPMed gnomAD
rs782040632 CA2416502	343	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1553718149 CA352920641	344	G>E		No	ClinGen gnomAD

No associated diseases with Q9NS23

4 regional properties for Q9NS23

Type	Name	Position	InterPro Accession
domain	Ras-associating domain	198 - 292	IPR000159
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	50 - 105	IPR002219
domain	SARAH domain	294 - 341	IPR011524
domain	Ras association domain-containing protein 1, RA domain	134 - 290	IPR033600

Functions

		Description
EC Number
Subcellular Localization	[Isoform A]: Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Cytoplasm, cytoskeleton, spindle pole Nucleus	Localizes to cytoplasmic microtubules during interphase, to bipolar centrosomes associated with microtubules during prophase, to spindle fibers and spindle poles at metaphase and anaphase, to the midzone during early telophase, and to the midbody in late telophase in cells Colocalizes with MDM2 in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microtubule cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spindle pole	Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.

3 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
protein N-terminus binding	Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
zinc ion binding	Binding to a zinc ion (Zn).

9 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
positive regulation of protein ubiquitination	Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell cycle G1/S phase transition	Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle.
regulation of microtubule cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
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.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6ZTQ3	RASSF6	Ras association domain-containing protein 6	Homo sapiens (Human)	PR
Q8WWW0	RASSF5	Ras association domain-containing protein 5	Homo sapiens (Human)	PR
Q80UQ2	Rassf6	Ras association domain-containing protein 6	Mus musculus (Mouse)	PR
Q5EBH1	Rassf5	Ras association domain-containing protein 5	Mus musculus (Mouse)	PR
Q99MK9	Rassf1	Ras association domain-containing protein 1	Mus musculus (Mouse)	PR
O35141	Rassf5	Ras association domain-containing protein 5	Rattus norvegicus (Rat)	PR
Q4QR82	Rassf6	Ras association domain-containing protein 6	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSGEPELIEL	RELAPAGRAG	KGRTRLERAN	ALRIARGTAC	NPTRQLVPGR	GHRFQPAGPA
70	80	90	100	110	120
THTWCDLCGD	FIWGVVRKGL	QCARLSADCK	FTCHYRCRAL	VCLDCCGPRD	LGWEPAVERD
130	140	150	160	170	180
TNVDEPVEWE	TPDLSQAEIE	QKIKEYNAQI	NSNLFMSLNK	DGSYTGFIKV	QLKLVRPVSV
190	200	210	220	230	240
PSSKKPPSLQ	DARRGPGRGT	SVRRRTSFYL	PKDAVKHLHV	LSRTRAREVI	EALLRKFLVV
250	260	270	280	290	300
DDPRKFALFE	RAERHGQVYL	RKLLDDEQPL	RLRLLAGPSD	KALSFVLKEN	DSGEVNWDAF
310	320	330	340
SMPELHNFLR	ILQREEEEHL	RQILQKYSYC	RQKIQEALHA	CPLG