AiPD: Autoinhibited Protein Database

Q9P286

Gene name	PAK5
Protein name	Serine/threonine-protein kinase PAK 5
Names	p21-activated kinase 5, PAK-5, p21-activated kinase 7, PAK-7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57144
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	SERINE/THREONINE-PROTEIN KINASE TAO (PTHR48015)

Descriptions

The p21-activated protein kinases 5 (PAK5) in group II Parks family is a serine/threonine protein kinase, which is activated by binding to Rho family small GTPases, Rac and Cdc42. PAK5 autophosphorylation can be activated by the GTP bound form of Cdc42. PAK5 contains an autoinhibitory domain and its activity is regulated by Cdc42. Mutations of PAK5, which disrupt the interaction of Cdc42 and PAK5, also abolish the induction of autophosphorylation.

Autoinhibitory domains (AIDs)

Target domain	449-700 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment

AID

60-180 (Inhibitory fragment)

Target domain

449-700 (Protein kinase domain)

Relief mechanism

Partner binding (Cdc42-GTP binding)

Assay

Mutagenesis experiment

Accessory elements

585-608 (Activation loop from InterPro)

Target domain	426-717 (Catalytic domain of the Serine/Threonine Kinase, p21-activated kinase 5)
Relief mechanism
Assay

References

Ching YP et al. (2003) "Identification of an autoinhibitory domain of p21-activated protein kinase 5", The Journal of biological chemistry, 278, 33621-4

Bautista L et al. (2020) "p21-Activated Kinases in Thyroid Cancer", Endocrinology, 161,

Ha BH et al. (2012) "Type II p21-activated kinases (PAKs) are regulated by an autoinhibitory pseudosubstrate", Proceedings of the National Academy of Sciences of the United States of America, 109, 16107-12

Chong C et al. (2001) "The mechanism of PAK activation. Autophosphorylation events in both regulatory and kinase domains control activity", The Journal of biological chemistry, 276, 17347-53

Wang J et al. (2011) "Structural insights into the autoactivation mechanism of p21-activated protein kinase", Structure (London, England : 1993), 19, 1752-61

Lei M et al. (2000) "Structure of PAK1 in an autoinhibited conformation reveals a multistage activation switch", Cell, 102, 387-97

Totaro A et al. (2007) "Identification of an intramolecular interaction important for the regulation of GIT1 functions", Molecular biology of the cell, 18, 5124-38

Rousseau V et al. (2003) "A new constitutively active brain PAK3 isoform displays modified specificities toward Rac and Cdc42 GTPases", The Journal of biological chemistry, 278, 3912-20

Dan C et al. (2002) "PAK5, a new brain-specific kinase, promotes neurite outgrowth in N1E-115 cells", Molecular and cellular biology, 22, 567-77

Kaur R et al. (2005) "Activation of p21-activated kinase 6 by MAP kinase kinase 6 and p38 MAP kinase", The Journal of biological chemistry, 280, 3323-30

Gao J et al. (2013) "Substrate and inhibitor specificity of the type II p21-activated kinase, PAK6", PloS one, 8, e77818

Autoinhibited structure

Activated structure

3 structures for Q9P286

Entry ID	Method	Resolution	Chain	Position	Source
2F57	X-ray	180 A	A/B	425-719	PDB
8C12	X-ray	155 A	AAA	426-719	PDB
AF-Q9P286-F1	Predicted				AlphaFoldDB

510 variants for Q9P286

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA408265101 rs1342873352	4	K>E		No	ClinGen gnomAD
CA9762626 rs757331403	6	K>N		No	ClinGen ExAC gnomAD
rs569145578 CA9762625	7	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs201739632 CA311740811	8	K>E		No	ClinGen 1000Genomes
rs764122690 CA9762624 COSM1742237	8	K>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1173963588 CA408265063	9	I>F		No	ClinGen TOPMed gnomAD
rs1434731980 CA408265062	9	I>T		No	ClinGen gnomAD
rs1173963588 CA408265064	9	I>V		No	ClinGen TOPMed gnomAD
CA408265037 rs1186099038	13	G>C		No	ClinGen gnomAD
CA9762622 rs549205397	13	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs760501160 CA9762620	14	P>L		No	ClinGen ExAC gnomAD
CA9762618 rs772012149	18	E>V		No	ClinGen ExAC gnomAD
CA408264985 rs1313101073	20	R>S		No	ClinGen gnomAD
rs747993132 CA9762617	21	V>F		No	ClinGen ExAC gnomAD
CA9762616 rs529060467	22	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1299162097 CA408264943	27	P>T		No	ClinGen gnomAD
CA9762614 rs567791252	29	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA9762615 rs567791252	29	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9762613 rs779847532	32	F>C		No	ClinGen ExAC gnomAD
CA408264893 rs1359466621	34	G>S		No	ClinGen gnomAD
rs896197201 CA311740806	36	P>L		No	ClinGen TOPMed
CA9762611 rs746222055	37	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9762609 rs757816375	41	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1001989123 CA311740805	44	A>T		No	ClinGen TOPMed gnomAD
rs752016237 CA9762608	45	D>H		No	ClinGen ExAC TOPMed
rs1184049921 CA408264809	46	T>M		No	ClinGen gnomAD
rs1204708887 CA408264722	59	I>L		No	ClinGen gnomAD
rs758410451 CA9762606	66	P>A		No	ClinGen ExAC gnomAD
rs890326231 CA311740803	67	M>K		No	ClinGen Ensembl
rs1343325802 CA408264672	67	M>V		No	ClinGen TOPMed gnomAD
CA408226331 rs1363404594	69	T>A		No	ClinGen TOPMed
CA9762587 rs769990291	69	T>I		No	ClinGen ExAC gnomAD
rs769990291 CA408226328	69	T>K		No	ClinGen ExAC gnomAD
rs758518559 CA9762586	71	V>I		No	ClinGen ExAC TOPMed gnomAD
CA311317125 rs867333778	73	G>E		No	ClinGen Ensembl
rs531236384 COSM359669 CA9762585	77	C>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1015706809 CA311317114	77	C>W		No	ClinGen TOPMed gnomAD
CA311317110 rs151099803	78	K>E		No	ClinGen Ensembl
CA9762584 rs778814789	81	S>P		No	ClinGen ExAC gnomAD
rs1473864222 CA408226240	83	N>D		No	ClinGen gnomAD
CA311317101 rs1007888461	83	N>S		No	ClinGen TOPMed
CA9762583 rs755247878	84	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1265292749 CA408226209	86	L>I		No	ClinGen TOPMed
CA311317084 rs918236421	86	L>P		No	ClinGen TOPMed gnomAD
CA9762582 rs201196548	87	E>Q		No	ClinGen 1000Genomes ExAC
CA9762581 rs377720048	91	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9762580 rs761695534	92	I>V		No	ClinGen ExAC TOPMed gnomAD
rs542553062 CA9762579	93	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1259650541 CA408226105	93	S>T		No	ClinGen gnomAD
CA9762577 rs762592578	95	T>S		No	ClinGen ExAC gnomAD
CA9762576 rs775097743 COSM1615915	96	R>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs559966028 CA9762575 COSM1413365	96	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA311317052 rs559966028	96	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776084037 CA9762573	97	S>C		No	ClinGen ExAC gnomAD
CA311317049 COSM229360 rs866647311	99	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1568978001 CA408225938	105	P>L		No	ClinGen Ensembl
rs866310872 CA311317036	105	P>S		No	ClinGen Ensembl
rs747348291 CA9762570	106	P>A		No	ClinGen ExAC gnomAD
CA408225926 rs1407217736	106	P>H		No	ClinGen TOPMed
rs1176133163 CA408225911	107	T>I		No	ClinGen gnomAD
rs1603228842 CA408225918	107	T>P		No	ClinGen Ensembl
rs375170699 CA9762565	109	D>G		No	ClinGen ESP ExAC TOPMed
rs772596554 CA9762566	109	D>H		No	ClinGen ExAC gnomAD
CA9762562 rs779060669	110	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA408225894 rs779060669	110	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA9762561 rs766022070	110	Q>R		No	ClinGen ExAC
CA408225888 rs1315267385	111	G>R		No	ClinGen gnomAD
rs1260430140 CA408225882	112	A>P		No	ClinGen gnomAD
CA9762556 rs142065974	116	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408225841 rs757167550	116	G>R		No	ClinGen ExAC TOPMed gnomAD
rs757167550 CA9762557	116	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9762555 rs55923311 VAR_040978	118	G>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9762554 rs201131316	120	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1234148699 CA408225789	120	A>P		No	ClinGen gnomAD
rs1234148699 CA408225791	120	A>T		No	ClinGen gnomAD
CA9762553 COSM87985 rs201131316	120	A>V	central_nervous_system urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA408225720 rs1391111809	124	G>D		No	ClinGen gnomAD
rs758968415 CA9762551	127	T>A		No	ClinGen ExAC gnomAD
CA408225651 rs1262495622	129	S>F		No	ClinGen TOPMed
rs1413288112 CA408225638	130	Q>R		No	ClinGen gnomAD
rs770535551 CA9762549	131	Y>*		No	ClinGen ExAC gnomAD
rs760277504 CA9762548	132	S>C		No	ClinGen ExAC TOPMed gnomAD
rs760277504 CA408225606	132	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1186089642 CA408225582	134	E>K		No	ClinGen gnomAD
CA9762546 rs772362758	135	S>F		No	ClinGen ExAC gnomAD
rs774715756 CA9762544	136	D>N		No	ClinGen ExAC TOPMed gnomAD
CA311316849 rs1048649187	138	T>A		No	ClinGen TOPMed
CA408225519 rs1440631593	138	T>S		No	ClinGen gnomAD
rs144997856 CA9762543 COSM3799804	139	A>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs929758445 CA311316841	142	T>M		No	ClinGen TOPMed
CA408225464 rs1338953691	143	T>A		No	ClinGen gnomAD
rs1272802288 CA408225460	143	T>I		No	ClinGen gnomAD
rs773981325 CA9762540	144	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756436595 CA9762539	145	K>E		No	ClinGen ExAC gnomAD
CA408225433 rs1426796179	145	K>N		No	ClinGen gnomAD
rs758203822 CA9762536	149	K>M		No	ClinGen ExAC gnomAD
rs752749714 CA408225350	151	L>I		No	ClinGen ExAC TOPMed gnomAD
rs752749714 CA9762535	151	L>V		No	ClinGen ExAC TOPMed gnomAD
CA408225337 rs1369133982	152	Y>C		No	ClinGen gnomAD
CA9762534 rs765076799	154	D>N		No	ClinGen ExAC TOPMed gnomAD
CA408225319 rs753315436	155	D>H		No	ClinGen ExAC TOPMed gnomAD
rs753315436 CA9762533	155	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9762532 rs753315436	155	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA9762530 rs760330867 COSM172069	158	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760330867 CA9762531	158	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA311316731 rs867283576	158	P>S		No	ClinGen Ensembl
rs1471760463 CA408225281	161	R>G		No	ClinGen TOPMed gnomAD
rs1187958206 CA408225276	161	R>S		No	ClinGen gnomAD
rs1370168094 CA408225279	161	R>T		No	ClinGen gnomAD
rs962644124 CA311316708	164	H>R		No	ClinGen TOPMed
CA311316700 rs985722631	165	A>T		No	ClinGen TOPMed
rs1207485847 CA408225248	166	A>T		No	ClinGen gnomAD
rs762069361 CA9762526	166	A>V		No	ClinGen ExAC TOPMed gnomAD
CA408225235 rs1197179795	168	Q>K		No	ClinGen TOPMed
CA9762524 rs769013127	171	H>N		No	ClinGen ExAC gnomAD
rs1359040683 CA408225210	171	H>R		No	ClinGen gnomAD
rs749763005 CA9762523	172	V>I		No	ClinGen ExAC gnomAD
CA9762521 rs769939031	173	M>I		No	ClinGen ExAC gnomAD
CA408225181 rs1411277423	175	M>T		No	ClinGen gnomAD
rs1485168039 CA408225154	179	E>K		No	ClinGen gnomAD
rs1377969917 CA408225145	180	A>T		No	ClinGen TOPMed
rs746095667 CA9762520	181	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs148001479 CA9762519	182	Y>C		No	ClinGen ESP ExAC gnomAD
rs758330533 CA9762518	184	E>Q		No	ClinGen ExAC gnomAD
CA311316633 rs749532063	185	V>M		No	ClinGen Ensembl
VAR_040979 CA9762515 rs34280805	187	P>A		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA9762516 rs34280805	187	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753745102 CA9762514	188	L>F		No	ClinGen ExAC gnomAD
CA408225074 rs1473030245	191	D>Y		No	ClinGen gnomAD
rs1603228573 CA408225051	194	R>T		No	ClinGen Ensembl
CA9762511 rs375668103	197	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs762286985 CA9762509	198	D>N		No	ClinGen ExAC gnomAD
CA408225012 rs1327784513	200	H>D		No	ClinGen TOPMed gnomAD
CA408225013 rs1327784513	200	H>N		No	ClinGen TOPMed gnomAD
rs1290582545 CA408225006	200	H>Q		No	ClinGen gnomAD
CA408224997 rs1350688953	202	H>L		No	ClinGen gnomAD
rs996576343 CA311316548	202	H>N		No	ClinGen TOPMed gnomAD
rs996576343 CA408224998	202	H>Y		No	ClinGen TOPMed gnomAD
CA9762508 rs774601283	204	D>Y		No	ClinGen ExAC gnomAD
rs1351057883 CA408224972	206	L>M		No	ClinGen gnomAD
CA9762507 rs370945155	207	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1023544251 CA311316537	207	S>R		No	ClinGen Ensembl
CA408224945 rs1229231146	210	S>C		No	ClinGen Ensembl
rs1456634194 CA408224941	210	S>R		No	ClinGen gnomAD
CA408224933 rs1386424376	211	E>D		No	ClinGen gnomAD
rs1161069257 COSM1413364 CA408224930	212	Y>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9762506 rs763372348	212	Y>S		No	ClinGen ExAC gnomAD
CA9762504 rs770054494	213	S>N		No	ClinGen ExAC TOPMed gnomAD
rs571790879 CA9762503	214	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1463915700 CA408224890	217	W>*		No	ClinGen gnomAD
CA9762499 rs778579773	222	A>G		No	ClinGen ExAC gnomAD
rs867074457 CA311316496	223	S>L		No	ClinGen Ensembl
CA9762496 rs779963552	224	S>N		No	ClinGen ExAC gnomAD
rs1274904681 CA408224839	225	S>G		No	ClinGen gnomAD
CA9762495 rs141245476	225	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749913916 CA9762494	226	S>C		No	ClinGen ExAC gnomAD
rs780632214 CA9762493	227	P>S		No	ClinGen ExAC gnomAD
rs751155368 CA9762491	236	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751155368 CA408224762	236	P>R		No	ClinGen ExAC TOPMed gnomAD
COSM1534594 rs756890556 CA9762492	236	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9762490 rs147760246	237	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9762489 rs763361312	239	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1397011664 CA408224747	239	T>S		No	ClinGen TOPMed
rs1464884282 CA408224738	241	G>R		No	ClinGen TOPMed
CA9762487 COSM377917 rs765805039	242	T>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9762488 rs765805039	242	T>S		No	ClinGen ExAC TOPMed gnomAD
CA408224727 rs1250002082	243	S>G		No	ClinGen gnomAD
rs759735319 CA9762486	243	S>I		No	ClinGen ExAC TOPMed gnomAD
CA9762483 rs760823835	244	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9762484 rs760823835	244	G>W		No	ClinGen ExAC TOPMed gnomAD
CA408224708 rs1243279953	246	S>P		No	ClinGen TOPMed
rs1192887616 CA408224689	248	E>D		No	ClinGen gnomAD
CA9762481 rs768404107	249	S>N		No	ClinGen ExAC TOPMed gnomAD
rs749053372 CA9762480	249	S>R		No	ClinGen ExAC gnomAD
rs745765163 CA9762478	251	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9762477 rs745765163	251	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756732283 CA9762475	252	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA311316398 rs878869348	252	Y>N		No	ClinGen Ensembl
rs1378424448 CA408224665	253	S>G		No	ClinGen gnomAD
rs1378424448 CA408224666	253	S>R		No	ClinGen gnomAD
rs1200639374 CA408224657	254	E>Q		No	ClinGen TOPMed
CA9762474 rs374699242	255	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs185363986 CA311316364	255	S>I		No	ClinGen 1000Genomes
CA408224637 rs1421522394	256	E>D		No	ClinGen TOPMed
CA9762473 rs777475273	257	W>C		No	ClinGen ExAC gnomAD
CA408224628 rs1359555839	258	G>R		No	ClinGen gnomAD
COSM578605 CA9762472 rs758725931	258	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1477404362 CA408224600	262	D>G		No	ClinGen TOPMed
CA408224592 rs1169379701	263	D>G		No	ClinGen gnomAD
CA9762469 rs760127620	265	D>G		No	ClinGen ExAC gnomAD
COSM578607 rs987695739 CA311316314	266	R>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1050454495 CA311316303	269	K>T		No	ClinGen gnomAD
rs781706438 CA311316302	271	S>L		No	ClinGen Ensembl
CA9762464 rs767757338	272	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs761974246 CA9762463	273	L>P		No	ClinGen ExAC gnomAD
rs142086015 CA408224528	273	L>V		No	ClinGen gnomAD
rs201331261 CA9762462	274	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776615004 CA9762459	280	P>L		No	ClinGen ExAC gnomAD
CA9762456 rs372728080	282	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs375741873 CA9762457	282	M>V		No	ClinGen ESP ExAC gnomAD
CA9762454 rs369268475	283	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9762455 rs145132727	283	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA311316224 rs1022040039	285	R>S		No	ClinGen TOPMed gnomAD
CA408224419 rs1568976952	286	S>P		No	ClinGen Ensembl
CA9762452 rs559720359	290	S>L		No	ClinGen ExAC gnomAD
rs766880332 CA9762450	291	G>E		No	ClinGen ExAC gnomAD
rs1482029779 CA408224361	292	L>H		No	ClinGen TOPMed
CA311316185 rs981485228	292	L>V		No	ClinGen gnomAD
rs756198440 CA9762449 COSM1713210	294	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767455314 CA9762447	295	P>L		No	ClinGen ExAC gnomAD
rs767455314 CA9762448	295	P>Q		No	ClinGen ExAC gnomAD
CA9762445 rs774498221	296	M>V		No	ClinGen ExAC
rs139133385 CA9762444	297	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408224292 rs1263199713	298	P>L		No	ClinGen TOPMed
rs759320836 CA9762443	299	F>L		No	ClinGen ExAC gnomAD
rs1603228239 CA408224284	299	F>S		No	ClinGen Ensembl
CA9762442 rs776471547	300	G>R		No	ClinGen ExAC gnomAD
rs747450774 CA311316121	302	S>R		No	ClinGen Ensembl
rs746868962 CA9762440	303	A>E		No	ClinGen ExAC gnomAD
rs770875912 CA9762441 COSM3701665	303	A>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9762439 rs146248904	307	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA408224189 rs1307918949	308	P>H		No	ClinGen gnomAD
rs771654927 CA311316106	308	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9762438 rs771654927	308	P>T		No	ClinGen ExAC TOPMed gnomAD
COSM20474 VAR_040980 CA311316102 rs952665081	312	S>P	large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt Ensembl dbSNP
CA311316082 rs1027275621	317	T>N		No	ClinGen Ensembl
COSM283682 CA9762437 rs376118527	320	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA9762436 rs778705496	320	R>H		No	ClinGen ExAC gnomAD
CA408224056 rs778705496	320	R>P		No	ClinGen ExAC gnomAD
COSM110253 CA311316076 rs145878623	321	L>V	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs373636525 CA311316063	322	S>F		No	ClinGen ESP TOPMed
rs140079492 CA9762434	323	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1388617807 CA408224032	323	E>K		No	ClinGen TOPMed gnomAD
rs780232768 COSM387238 CA9762433	324	P>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1603228158 CA408224012	325	T>A		No	ClinGen Ensembl
CA311316029 rs539835877	325	T>K		No	ClinGen TOPMed gnomAD
rs899248640 CA311316028	326	M>V		No	ClinGen TOPMed
CA408223976 rs756676424	328	I>F		No	ClinGen ExAC TOPMed gnomAD
rs756676424 CA9762432	328	I>V		No	ClinGen ExAC TOPMed gnomAD
rs577793135 CA9762431	329	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs58486349 CA9762406	334	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9762407 rs58486349	334	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1231247715 CA408223370	335	R>G		No	ClinGen gnomAD
CA408223368 rs11700112	335	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9762404 rs11700112 VAR_040981	335	R>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11700112 CA9762405	335	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376623256 CA9762403	338	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs6077563 CA311306466	341	S>I		No	ClinGen Ensembl
rs6077563 CA408223329	341	S>N		No	ClinGen Ensembl
rs144853970 CA311306458	342	P>S		No	ClinGen ESP TOPMed
rs144853970 CA311306462	342	P>T		No	ClinGen ESP TOPMed
CA9762402 rs761795699	343	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9762401 rs774029320	344	L>M		No	ClinGen ExAC
rs768215124 CA9762400	344	L>P		No	ClinGen ExAC gnomAD
rs1166238579 CA408223283	349	T>N		No	ClinGen gnomAD
CA9762398 rs774991929 COSM229359	351	P>L	lung skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1373157241 CA408223260	353	G>D		No	ClinGen TOPMed
CA9762395 rs781698677	353	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9762396 rs781698677	353	G>S		No	ClinGen ExAC TOPMed gnomAD
rs771448843 CA9762394	355	A>V		No	ClinGen ExAC TOPMed gnomAD
rs921511471 CA311306423	358	P>L		No	ClinGen Ensembl
CA408223222 rs1211778979	359	Q>H		No	ClinGen gnomAD
CA9762392 rs777831878	360	S>N		No	ClinGen ExAC TOPMed gnomAD
rs531789007 CA408223199	362	S>R		No	ClinGen 1000Genomes TOPMed
rs562732119 COSM578608 CA9762391	364	S>L	lung endometrium skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA408223182 rs778974166	365	G>A		No	ClinGen ExAC gnomAD
CA408223185 rs1244914963	365	G>S		No	ClinGen gnomAD
COSM578609 CA9762389 rs778974166	365	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA311306403 rs868370722	368	S>L		No	ClinGen Ensembl
CA9762385 rs201806858	370	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866106591 CA311306388	371	H>Y		No	ClinGen Ensembl
CA9762384 rs767481065	372	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs924744761 COSM724623 CA311306384	374	P>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1326451619 CA408223106	377	Y>H		No	ClinGen gnomAD
CA9762381 rs762365457	380	A>G		No	ClinGen ExAC gnomAD
rs971437364 CA311306350	381	T>S		No	ClinGen Ensembl
CA311306343 rs201610769	382	L>S		No	ClinGen TOPMed gnomAD
CA9762378 rs759137024	382	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9762377 rs777008824	385	H>P		No	ClinGen ExAC gnomAD
CA9762376 rs771214175	388	L>V		No	ClinGen ExAC gnomAD
CA408223015 rs1438419751	390	S>R		No	ClinGen TOPMed gnomAD
rs757070543 CA311306337	391	S>G		No	ClinGen TOPMed gnomAD
CA9762374 rs773708187	391	S>N		No	ClinGen ExAC TOPMed gnomAD
rs773708187 CA408223011	391	S>T		No	ClinGen ExAC TOPMed gnomAD
rs139208524 CA9762372	393	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9762370 rs146777362	396	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1018346655 CA311306276	397	T>M		No	ClinGen TOPMed gnomAD
rs781148117 CA9762368 COSM1219148	398	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408222965 rs1480571023	398	A>V		No	ClinGen TOPMed
CA9762367 rs141178733	400	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396657359 CA408222951	401	L>M		No	ClinGen gnomAD
rs138771141 CA9762365	401	L>P		No	ClinGen ESP ExAC gnomAD
rs757974057 CA408222947	402	S>C		No	ClinGen ExAC gnomAD
rs757974057 CA9762364	402	S>G		No	ClinGen ExAC gnomAD
rs17852191 CA408222937	403	S>C		No	ClinGen gnomAD
rs17852191 CA408222936	403	S>F		No	ClinGen gnomAD
rs17852191 CA311306244	403	S>Y		No	ClinGen gnomAD
rs868410388 CA311306214	406	L>F		No	ClinGen Ensembl
rs371857333 CA9762361	406	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766799536 CA9762359	407	S>P		No	ClinGen ExAC gnomAD
rs1254136038 CA408222903	409	S>N		No	ClinGen gnomAD
CA9762358 rs533312278	411	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1179995955 CA408222891	411	Y>H		No	ClinGen gnomAD
CA9762356 rs772481025	412	P>S		No	ClinGen ExAC gnomAD
CA408222879 rs1225105907	413	P>A		No	ClinGen gnomAD
CA408222875 COSM42862 rs1252319558	413	P>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA408222861 rs1273706701	415	S>R		No	ClinGen gnomAD
CA408222830 rs1372579185	420	S>Y		No	ClinGen gnomAD
COSM230803 CA9762353 rs768724288	421	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA408222826 rs768724288	421	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1050755090 CA311306139	422	Q>H		No	ClinGen Ensembl
COSM295164 rs749580822 CA9762352	423	Q>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs932289046 CA311306119	424	P>T		No	ClinGen Ensembl
rs1485520095 CA408222790	426	R>S		No	ClinGen TOPMed
CA408222777 rs1401483061	428	S>F		No	ClinGen gnomAD
rs375378182 CA9762351	429	H>R		No	ClinGen ESP ExAC gnomAD
CA408222774 rs1268854558	429	H>Y		No	ClinGen TOPMed
CA408222751 rs1490391027	432	F>L		No	ClinGen TOPMed
COSM3939459 rs757157617 CA9762350	433	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1029393 CA408222744 rs1210292896	433	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1188417957 CA408222731	435	A>D		No	ClinGen gnomAD
CA408222733 rs1253723323	435	A>S		No	ClinGen gnomAD
rs746777284 CA9762349	437	Q>K		No	ClinGen ExAC gnomAD
CA311306074 rs1038104072	440	V>I		No	ClinGen TOPMed
rs758296451 CA9762347	442	P>L		No	ClinGen ExAC gnomAD
COSM1713209 rs942131023 CA311306055	443	G>E	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1453691859 CA408222653	448	Y>H		No	ClinGen TOPMed
rs754468025 CA9762345	449	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1363005842 CA408222608	454	K>T		No	ClinGen TOPMed gnomAD
CA9762338 rs762240728	461	G>S		No	ClinGen ExAC TOPMed gnomAD
CA408222554 rs1225218120	462	I>N		No	ClinGen TOPMed
rs933467994 CA408222535	465	I>N		No	ClinGen TOPMed gnomAD
rs933467994 CA311306013	465	I>T		No	ClinGen TOPMed gnomAD
CA311306008 rs751328296	466	A>T		No	ClinGen gnomAD
CA311306007 rs950153286	467	T>I		No	ClinGen Ensembl
COSM1413356 CA311305996 rs764351685	468	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA9762337 rs774909461	470	H>R		No	ClinGen ExAC gnomAD
CA9762335 rs763093827	472	G>R		No	ClinGen ExAC gnomAD
rs775902271 CA9762334	475	V>D		No	ClinGen ExAC gnomAD
CA408222462 rs1297576708	477	V>M		No	ClinGen gnomAD
rs1359514477 CA408222445	479	K>T		No	ClinGen TOPMed
CA408222436 rs1413008079	480	M>T		No	ClinGen gnomAD
COSM170280 CA311305952 rs991533102	483	R>Q	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs777430875 CA9762331 COSM3707969	483	R>W	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs771840400 COSM1219150 CA9762330	488	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA311305951 rs958970085	488	R>Q		No	ClinGen Ensembl
rs974397478 CA311305940	492	F>L		No	ClinGen Ensembl
rs1251696311 CA408222358	492	F>S		No	ClinGen TOPMed
CA9762328 rs778882481	493	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1157867380 CA408222325	495	V>F		No	ClinGen gnomAD
rs749160745 CA9762308	496	V>M		No	ClinGen ExAC gnomAD
CA9762305 rs368217948 COSM1219149	499	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9762306 rs755638779	499	R>W		No	ClinGen ExAC gnomAD
CA408222292 rs1215512353	500	D>E		No	ClinGen gnomAD
COSM109922 rs140682624 CA311304268	500	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9762304 rs780864897	501	Y>N		No	ClinGen ExAC gnomAD
CA408222275 rs1176069425	503	H>N		No	ClinGen gnomAD
CA9762302 rs751975518	504	D>N		No	ClinGen ExAC gnomAD
rs796799842 CA311304257	505	N>S		No	ClinGen Ensembl
CA311304249 rs1047406889	509	M>I		No	ClinGen TOPMed
rs764513567 CA9762301	509	M>T		No	ClinGen ExAC gnomAD
CA408222226 rs1328443324	510	Y>H		No	ClinGen TOPMed gnomAD
CA408222214 rs2297345	511	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9762300 VAR_021865 rs2297345	511	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408222215 rs2297345	511	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9762299 rs753193946	512	S>G		No	ClinGen ExAC
CA311304238 rs901482740	516	G>A		No	ClinGen gnomAD
rs776769814 CA9762296	516	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1432044653 CA408222176	517	D>G		No	ClinGen gnomAD
CA408222180 rs1159424856 COSM3405307	517	D>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1241007180 CA408222165	518	E>D		No	ClinGen TOPMed
rs1308740724 CA408222162	519	L>F		No	ClinGen TOPMed
rs529855749 CA408222121	524	E>D		No	ClinGen gnomAD
rs1468911860 CA408222103	527	E>G		No	ClinGen gnomAD
CA408222096 rs1247169600	528	G>D		No	ClinGen gnomAD
rs1320950597 CA408222065	533	D>A		No	ClinGen TOPMed
CA408222066 rs1290329257	533	D>Y		No	ClinGen TOPMed
rs760772824 CA9762294	536	T>I		No	ClinGen ExAC gnomAD
rs1233651173 COSM1413355 CA408222033	538	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA408221996 rs1410507450	541	N>S		No	ClinGen TOPMed
CA311301800 rs868564987	542	E>K		No	ClinGen Ensembl
CA408221980 rs1169111504	543	E>G		No	ClinGen TOPMed
rs1230282451 CA408221972	544	Q>P		No	ClinGen gnomAD
CA311301797 rs770117085	545	I>R		No	ClinGen ExAC TOPMed gnomAD
CA9762274 rs770117085	545	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1352285373 CA408221968	545	I>V		No	ClinGen TOPMed
rs199561623 CA311301795	548	V>I		No	ClinGen TOPMed gnomAD
CA408221944 rs1383912053	549	C>Y		No	ClinGen TOPMed
rs1190357887 CA408221935	550	L>R		No	ClinGen gnomAD
CA311301793 rs749915897	551	S>L		No	ClinGen Ensembl
rs760968208 CA9762273	554	R>K		No	ClinGen ExAC gnomAD
rs34102290 CA311301786	555	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_040983 rs34102290 CA9762271	555	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34102290 CA9762272	555	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408221901 rs1305866529	557	S>A		No	ClinGen TOPMed
rs1205730758 CA408221898	557	S>F		No	ClinGen TOPMed
CA311301783 rs1002540828	558	Y>*		No	ClinGen Ensembl
rs1243986113 CA408221888	559	L>F		No	ClinGen TOPMed
CA408221881 rs1461094602	560	H>R		No	ClinGen TOPMed
rs769790501 CA9762268	561	N>K		No	ClinGen ExAC gnomAD
CA408221864 rs1166015532	562	Q>L		No	ClinGen gnomAD
CA408221861 COSM359668 rs1463520011	563	G>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs776208185 CA9762266	569	I>L		No	ClinGen ExAC gnomAD
rs776208185 CA9762267	569	I>V		No	ClinGen ExAC gnomAD
rs1278838671 CA408221790	573	S>T		No	ClinGen gnomAD
rs746712269 CA9762264	576	L>P		No	ClinGen ExAC gnomAD
CA9762263 rs777561503	578	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9762261 COSM1534602 rs748547848	579	D>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9762258 rs754244326	581	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9762259 rs746240534	581	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1438633238 CA408221725	582	I>V		No	ClinGen gnomAD
CA408221680 rs1406112543	588	G>C		No	ClinGen TOPMed gnomAD
COSM1632418 rs750522998 CA9762238	595	K>E	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1440316043 CA408221623	596	E>G		No	ClinGen Ensembl
CA408221619 rs1170474758	597	V>M		No	ClinGen gnomAD
rs765134491 CA9762234	598	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9762235 rs765134491	598	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1449976785 CA408221613	598	P>S		No	ClinGen TOPMed gnomAD
rs766202583 CA9762231	605	G>R		No	ClinGen ExAC gnomAD
CA408221551 rs1225133285	607	P>L		No	ClinGen gnomAD
CA408221521 rs1603191149	611	A>G		No	ClinGen Ensembl
CA9762230 rs760652577	611	A>S		No	ClinGen ExAC gnomAD
rs1603191088 CA408221500	614	V>G		No	ClinGen Ensembl
CA408221505 rs1231975775	614	V>M		No	ClinGen gnomAD
CA408221495 rs986058662	615	I>N		No	ClinGen gnomAD
CA311297031 rs986058662	615	I>T		No	ClinGen gnomAD
rs772857164 CA9762229	619	P>T		No	ClinGen ExAC gnomAD
CA311297021 rs866476619	623	E>V		No	ClinGen Ensembl
rs762628226 CA9762206	625	D>G		No	ClinGen ExAC
rs149977525 CA9762205	626	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9762203 rs746432822	628	S>P		No	ClinGen ExAC gnomAD
rs371878197 CA311296258	632	M>I		No	ClinGen ESP TOPMed
rs747034583 CA9762200	634	I>K		No	ClinGen ExAC gnomAD
COSM233038 rs867092977 CA311296245	636	M>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs564630923 CA9762199	636	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1440623678 CA408221341	637	I>T		No	ClinGen TOPMed gnomAD
CA408221335 rs1171769971	638	D>A		No	ClinGen gnomAD
rs1162341643 CA408221317	640	E>D		No	ClinGen gnomAD
rs1416163895 CA408221323	640	E>K		No	ClinGen TOPMed gnomAD
rs1416163895 CA408221324	640	E>Q		No	ClinGen TOPMed gnomAD
CA408221313 rs1568952743	641	P>L		No	ClinGen Ensembl
CA311296239 rs866291709	642	P>S		No	ClinGen gnomAD
rs780056034 CA9762196	643	Y>C		No	ClinGen ExAC gnomAD
rs1176164082 CA408221286	645	N>S		No	ClinGen gnomAD
rs747314091 CA9762195	646	E>K		No	ClinGen ExAC TOPMed gnomAD
CA408221273 rs1229227713	647	P>L		No	ClinGen TOPMed
rs575633716 CA9762194	647	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9762193 rs767541766	651	A>V		No	ClinGen ExAC gnomAD
rs751063947 CA9762191	652	M>T		No	ClinGen ExAC gnomAD
CA9762190 rs763590647	653	R>Q		No	ClinGen ExAC gnomAD
CA311296222 rs769363113	653	R>W		No	ClinGen gnomAD
rs367986819 CA408221218	656	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367986819 CA9762187	656	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs775109543 COSM1327479 CA9762188	656	R>W	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1181567553 CA408221217	657	D>N		No	ClinGen TOPMed
CA408221208 rs1440904920	658	S>G		No	ClinGen gnomAD
rs1328403185 CA408221190	660	P>R		No	ClinGen gnomAD
rs376946110 CA9762185	660	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA408221181 rs1603188421	662	R>K		No	ClinGen Ensembl
CA9762184 rs771361643	663	V>M		No	ClinGen ExAC gnomAD
rs1170770394 CA408221168	664	K>R		No	ClinGen Ensembl
rs150828790 CA9762183	665	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368616079 CA9762172	669	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393151844 CA408221119	670	S>T		No	ClinGen gnomAD
CA9762170 rs752382303	672	V>E		No	ClinGen ExAC gnomAD
rs906404941 CA311294632	673	L>F		No	ClinGen TOPMed
CA9762168 rs759137045	674	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9762169 rs575889963	674	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199976502 CA9762167	675	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1043556468 CA311294616	677	L>P		No	ClinGen TOPMed gnomAD
CA311294612 rs375417032	678	D>A		No	ClinGen ESP
CA408221077 rs1345841620	678	D>N		No	ClinGen gnomAD
CA311294601 rs945289033	680	M>K		No	ClinGen TOPMed gnomAD
CA9762165 rs761147242	680	M>L		No	ClinGen ExAC TOPMed gnomAD
CA408221062 rs945289033	680	M>T		No	ClinGen TOPMed gnomAD
CA9762166 rs761147242	680	M>V		No	ClinGen ExAC TOPMed gnomAD
rs199614702 CA9762164	681	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772089121 CA9762163	684	E>D		No	ClinGen ExAC gnomAD
CA311294600 rs867360779	684	E>K		No	ClinGen Ensembl
rs913788153 CA311294589	685	P>S		No	ClinGen TOPMed
CA408221031 rs913788153	685	P>T		No	ClinGen TOPMed
rs1342037884 CA408221023	686	S>C		No	ClinGen TOPMed gnomAD
CA408221006 rs1433508693	689	A>T		No	ClinGen TOPMed gnomAD
rs1056482833 CA311294584	690	T>A		No	ClinGen TOPMed gnomAD
rs761963167 CA9762162	691	A>V		No	ClinGen ExAC gnomAD
rs6086931 CA311294576	695	L>F		No	ClinGen Ensembl
CA9762160 rs781425219	696	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749456245 CA9762159	697	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9762157 rs200458985	699	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs929684362 CA311294559	701	K>N		No	ClinGen Ensembl
CA9762155 rs777734851	703	A>G		No	ClinGen ExAC gnomAD
CA9762156 rs777734851	703	A>V		No	ClinGen ExAC gnomAD
COSM21068 CA408220915 rs1484691555 VAR_040985	704	G>S	a metastatic melanoma sample; somatic mutation skin [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
CA9762153 rs201686986 COSM1751577	706	P>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201686986 CA9762154	706	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1488448004 CA408220894	707	S>F		No	ClinGen TOPMed
CA408220889 rs1459371947	708	C>S		No	ClinGen gnomAD
CA408220885 rs1191767492	709	I>V		No	ClinGen TOPMed
rs766724193 CA9762149	710	V>A		No	ClinGen ExAC TOPMed gnomAD
CA9762150 rs560752200	710	V>I		No	ClinGen ExAC TOPMed gnomAD
CA408220873 rs1365993506	711	P>A		No	ClinGen Ensembl
CA408220867 rs202003893	712	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202003893 CA9762148	712	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408220854 rs1568950680	713	M>I		No	ClinGen Ensembl
rs985653551 CA311294531	713	M>V		No	ClinGen Ensembl
rs968854029 CA311294522	715	Q>H		No	ClinGen TOPMed gnomAD
rs768092673 CA9762146	716	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA408220780 rs1395635543	718	H>Y		No	ClinGen TOPMed gnomAD
rs1166108582 CA408220767	719	H>N		No	ClinGen gnomAD
rs774579340 CA9762144	719	H>R		No	ClinGen ExAC gnomAD

No associated diseases with Q9P286

6 regional properties for Q9P286

Type	Name	Position	InterPro Accession
domain	SH3 domain	1 - 58	IPR001452-1
domain	SH3 domain	98 - 157	IPR001452-2
domain	SH3 domain	311 - 372	IPR001452-3
domain	SH3 domain-containing kinase-binding protein 1, first SH3 domain	3 - 55	IPR035770
domain	SH3 domain-containing kinase-binding protein 1, second SH3 domain	102 - 154	IPR035771
domain	SH3 domain-containing kinase-binding protein 1, third SH3 domain	315 - 370	IPR035772

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Mitochondrion Cytoplasm Nucleus	Shuttles between the nucleus and the mitochondria, and mitochondrial localization is essential for the role in cell survival
PANTHER Family	PTHR48015	SERINE/THREONINE-PROTEIN KINASE TAO
PANTHER Subfamily	PTHR48015:SF27	SERINE_THREONINE-PROTEIN KINASE PAK 5
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	Inflammation mediated by chemokine and cytokine signaling pathway PAK Cytoskeletal regulation by Rho GTPase PAK

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.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

13 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
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.
learning	Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
locomotory behavior	The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions.
memory	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
negative regulation of extrinsic apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cell growth	Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of MAPK cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade.
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.

25 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q12469	SKM1	Serine/threonine-protein kinase SKM1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q08E52	PAK1	Serine/threonine-protein kinase PAK 1	Bos taurus (Bovine)	SS
Q7YQL4	PAK3	Serine/threonine-protein kinase PAK 3	Pan troglodytes (Chimpanzee)	SS
Q9VXE5	mbt	Serine/threonine-protein kinase PAK mbt	Drosophila melanogaster (Fruit fly)	PR
Q13177	PAK2	Serine/threonine-protein kinase PAK 2	Homo sapiens (Human)	EV
Q13043	STK4	Serine/threonine-protein kinase 4	Homo sapiens (Human)	EV
Q13188	STK3	Serine/threonine-protein kinase 3	Homo sapiens (Human)	SS
Q9NQU5	PAK6	Serine/threonine-protein kinase PAK 6	Homo sapiens (Human)	EV
O96013	PAK4	Serine/threonine-protein kinase PAK 4	Homo sapiens (Human)	EV
O75914	PAK3	Serine/threonine-protein kinase PAK 3	Homo sapiens (Human)	SS
Q13153	PAK1	Serine/threonine-protein kinase PAK 1	Homo sapiens (Human)	EV
O95819	MAP4K4	Mitogen-activated protein kinase kinase kinase kinase 4	Homo sapiens (Human)	PR
Q8CIN4	Pak2	Serine/threonine-protein kinase PAK 2	Mus musculus (Mouse)	SS
O88643	Pak1	Serine/threonine-protein kinase PAK 1	Mus musculus (Mouse)	SS
Q61036	Pak3	Serine/threonine-protein kinase PAK 3	Mus musculus (Mouse)	SS
Q3ULB5	Pak6	Serine/threonine-protein kinase PAK 6	Mus musculus (Mouse)	PR
Q8C015	Pak5	Serine/threonine-protein kinase PAK 5	Mus musculus (Mouse)	SS
Q8BTW9	Pak4	Serine/threonine-protein kinase PAK 4	Mus musculus (Mouse)	PR
Q62829	Pak3	Serine/threonine-protein kinase PAK 3	Rattus norvegicus (Rat)	SS
Q64303	Pak2	Serine/threonine-protein kinase PAK 2	Rattus norvegicus (Rat)	SS
P35465	Pak1	Serine/threonine-protein kinase PAK 1	Rattus norvegicus (Rat)	SS
D4A280	Pak5	Serine/threonine-protein kinase PAK 5	Rattus norvegicus (Rat)	SS
Q17850	pak-1	Serine/threonine-protein kinase pak-1	Caenorhabditis elegans	PR
G5EGQ3	max-2	Serine/threonine-protein kinase max-2	Caenorhabditis elegans	SS
G5EFU0	pak-2	Serine/threonine-protein kinase pak-2	Caenorhabditis elegans	PR

10	20	30	40	50	60
MFGKKKKKIE	ISGPSNFEHR	VHTGFDPQEQ	KFTGLPQQWH	SLLADTANRP	KPMVDPSCIT
70	80	90	100	110	120
PIQLAPMKTI	VRGNKPCKET	SINGLLEDFD	NISVTRSNSL	RKESPPTPDQ	GASSHGPGHA
130	140	150	160	170	180
EENGFITFSQ	YSSESDTTAD	YTTEKYREKS	LYGDDLDPYY	RGSHAAKQNG	HVMKMKHGEA
190	200	210	220	230	240
YYSEVKPLKS	DFARFSADYH	SHLDSLSKPS	EYSDLKWEYQ	RASSSSPLDY	SFQFTPSRTA
250	260	270	280	290	300
GTSGCSKESL	AYSESEWGPS	LDDYDRRPKS	SYLNQTSPQP	TMRQRSRSGS	GLQEPMMPFG
310	320	330	340	350	360
ASAFKTHPQG	HSYNSYTYPR	LSEPTMCIPK	VDYDRAQMVL	SPPLSGSDTY	PRGPAKLPQS
370	380	390	400	410	420
QSKSGYSSSS	HQYPSGYHKA	TLYHHPSLQS	SSQYISTASY	LSSLSLSSST	YPPPSWGSSS
430	440	450	460	470	480
DQQPSRVSHE	QFRAALQLVV	SPGDPREYLA	NFIKIGEGST	GIVCIATEKH	TGKQVAVKKM
490	500	510	520	530	540
DLRKQQRREL	LFNEVVIMRD	YHHDNVVDMY	SSYLVGDELW	VVMEFLEGGA	LTDIVTHTRM
550	560	570	580	590	600
NEEQIATVCL	SVLRALSYLH	NQGVIHRDIK	SDSILLTSDG	RIKLSDFGFC	AQVSKEVPKR
610	620	630	640	650	660
KSLVGTPYWM	APEVISRLPY	GTEVDIWSLG	IMVIEMIDGE	PPYFNEPPLQ	AMRRIRDSLP
670	680	690	700	710
PRVKDLHKVS	SVLRGFLDLM	LVREPSQRAT	AQELLGHPFL	KLAGPPSCIV	PLMRQYRHH