AiPD: Autoinhibited Protein Database

O94806

Gene name	PRKD3 (EPK2, PRKCN)
Protein name	Serine/threonine-protein kinase D3
Names	Protein kinase C nu type, Protein kinase EPK2, nPKC-nu
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23683
EC number	2.7.11.13: Protein-serine/threonine kinases
Protein Class

Descriptions

Protein kinase D (PKD) is a member of Ser/Thr kinases and plays a major role in Golgi function and organization. The PH domain within the PKD may autoinhibit the function of the PKD.

Autoinhibitory domains (AIDs)

416-532 (PH domain) SS

Target domain	576-832 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

416-532 (PH domain)

Target domain

576-832 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation at Tyr-463 by Abl)

Assay

Accessory elements

719-741 (Activation loop from InterPro)

Target domain	576-832 (Protein kinase domain)
Relief mechanism
Assay

References

Storz P et al. (2003) "Tyrosine phosphorylation of protein kinase D in the pleckstrin homology domain leads to activation", The Journal of biological chemistry, 278, 17969-76

Autoinhibited structure

Activated structure

2 structures for O94806

Entry ID	Method	Resolution	Chain	Position	Source
2D9Z	NMR	-	A	417-532	PDB
AF-O94806-F1	Predicted				AlphaFoldDB

620 variants for O94806

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1618314 rs768251828	2	S>F		No	ClinGen ExAC gnomAD
CA1618313 rs746598026	4	N>S		No	ClinGen ExAC gnomAD
rs1208579075 CA346304730	6	S>C		No	ClinGen TOPMed gnomAD
CA1618312 rs779557771	7	P>L		No	ClinGen ExAC gnomAD
CA346304707 rs1465172501	7	P>S		No	ClinGen TOPMed
rs758008836 CA1618311	8	P>A		No	ClinGen ExAC gnomAD
CA346304649 rs1237563345	9	S>P		No	ClinGen gnomAD
CA346304573 rs1372139300	10	A>S		No	ClinGen gnomAD
CA1618309 rs531197262	11	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1618308 rs757062775	12	K>T		No	ClinGen ExAC gnomAD
rs753749590 CA1618307	14	V>I		No	ClinGen ExAC gnomAD
CA1618306 rs764055131	16	P>L		No	ClinGen ExAC TOPMed gnomAD
rs950826254 CA45483061	16	P>S		No	ClinGen gnomAD
rs1400406664 CA346304178	18	A>P		No	ClinGen TOPMed gnomAD
CA346304182 rs1400406664	18	A>T		No	ClinGen TOPMed gnomAD
rs140578156 CA45483040	19	I>V		No	ClinGen ESP
CA346304097 rs1193071564	20	P>A		No	ClinGen gnomAD
rs767502129 CA1618303	24	P>R		No	ClinGen ExAC gnomAD
CA346303919 rs759767264	25	A>P		No	ClinGen ExAC gnomAD
CA1618302 rs759767264	25	A>T		No	ClinGen ExAC gnomAD
rs1213817606 CA346303845	28	P>L		No	ClinGen gnomAD
COSM721050 CA45483020 rs751237903 COSM721049	28	P>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1618299 rs377326066	31	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs773852028 CA1618298	32	P>S		No	ClinGen ExAC gnomAD
rs770483661 CA1618297	34	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1618296 COSM186937 COSM186938 rs114047527	34	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA1618294 rs771512842	36	L>V		No	ClinGen ExAC gnomAD
rs145226914 CA1618293	38	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778581185 CA346303417	39	R>*		No	ClinGen ExAC TOPMed gnomAD
rs778581185 CA1618292	39	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1618291 COSM1531971 rs757011664 COSM1531970	39	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1042704555 CA45483005	40	L>P		No	ClinGen gnomAD
rs991283151 CA45483006	40	L>V		No	ClinGen TOPMed
CA346303357 rs1478144666	41	S>A		No	ClinGen gnomAD
CA346303358 rs1478144666	41	S>P		No	ClinGen gnomAD
VAR_037147 rs11896614 CA1618290	42	N>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA45482993 rs757981196	42	N>S		No	ClinGen Ensembl
rs1184649029 CA346303315	43	G>R		No	ClinGen gnomAD
CA346303286 rs1485271968	44	S>G		No	ClinGen gnomAD
CA45482992 rs1053283444	45	F>V		No	ClinGen Ensembl
CA1618289 rs373814676	46	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369082026 CA1618288	48	P>S		No	ClinGen ESP ExAC gnomAD
CA1618287 rs752612002	52	N>S		No	ClinGen ExAC TOPMed gnomAD
CA45482962 rs202192948	53	S>A		No	ClinGen Ensembl
CA45482961 rs141203618	54	R>G		No	ClinGen ESP
CA346303011 rs1320371987	55	G>D		No	ClinGen gnomAD
CA1618286 rs767589489	56	S>L		No	ClinGen ExAC gnomAD
CA346302981 rs1276873876	56	S>T		No	ClinGen gnomAD
rs147829006 CA1618285	57	V>M		No	ClinGen ESP ExAC gnomAD
rs377373102 CA1618284	59	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405615365 CA346302850	59	T>R		No	ClinGen gnomAD
rs763399078 CA1618282	60	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1334198789 CA346302812	61	S>*		No	ClinGen TOPMed
CA45482925 rs948599554	61	S>T		No	ClinGen TOPMed gnomAD
rs373090517 CA1618281	63	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1618278 rs777025865	67	G>V		No	ClinGen ExAC gnomAD
CA346302551 rs1354141718	68	L>V		No	ClinGen TOPMed
rs773986089 CA1618275	70	R>Q		No	ClinGen ExAC gnomAD
rs745406511 CA1618276	70	R>W		No	ClinGen ExAC gnomAD
rs1459390630 CA346302460	71	E>D		No	ClinGen gnomAD
rs1198826667 CA346302467	71	E>G		No	ClinGen gnomAD
CA346302477 rs1242126325	71	E>Q		No	ClinGen TOPMed
CA45482906 rs770625466	74	T>A		No	ClinGen ExAC TOPMed gnomAD
rs748947049 CA346302386	74	T>I		No	ClinGen ExAC gnomAD
CA1618273 rs748947049	74	T>N		No	ClinGen ExAC gnomAD
rs770625466 CA1618274	74	T>S		No	ClinGen ExAC TOPMed gnomAD
rs201869078 CA1618271	75	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1618272 rs201605612	75	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1618270 rs748098933	76	E>Q		No	ClinGen ExAC gnomAD
CA346302250 rs1382049084	78	Q>L		No	ClinGen gnomAD
CA1618269 rs781031857	80	L>P		No	ClinGen ExAC gnomAD
rs368943621 CA1618267	81	S>C		No	ClinGen ESP ExAC TOPMed
rs755082149 CA1618268	81	S>P		No	ClinGen ExAC gnomAD
CA1618265 rs555891910	85	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346302030 rs765588238	86	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1618264 rs750704028	86	K>R		No	ClinGen ExAC gnomAD
CA1618262 rs762134324	87	D>G		No	ClinGen ExAC gnomAD
rs537584951 CA45482855	90	C>F		No	ClinGen 1000Genomes gnomAD
CA346301934 rs1558583160	91	S>P		No	ClinGen Ensembl
CA346301915 rs751121026	92	I>L		No	ClinGen TOPMed gnomAD
rs62001879 CA1618260	92	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1441126271 CA346301903	92	I>T		No	ClinGen gnomAD
rs751121026 CA45482849	92	I>V		No	ClinGen TOPMed gnomAD
CA346301862 rs1187523036	93	V>G		No	ClinGen gnomAD
CA346301888 rs1195578085	93	V>L		No	ClinGen gnomAD
rs761133838 CA1618242	98	P>T		No	ClinGen ExAC
rs765855926 CA1618240	100	C>G		No	ClinGen ExAC TOPMed gnomAD
rs558859862 CA1618239	100	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772914061 CA1618238	104	G>R		No	ClinGen ExAC gnomAD
rs370745975 CA1618235	107	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs370745975 CA1618236	107	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs768600936 CA1618234	109	I>V		No	ClinGen ExAC TOPMed gnomAD
CA346291779 rs746892209	110	L>F		No	ClinGen ExAC TOPMed gnomAD
rs746892209 CA1618233	110	L>I		No	ClinGen ExAC TOPMed gnomAD
CA1618232 rs533848428	113	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs746007910 CA1618230	113	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746007910 CA1618231	113	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1618228 rs139697257	114	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA45462373 rs1041425490	114	H>Y		No	ClinGen TOPMed gnomAD
CA1618227 rs754092569	116	M>T		No	ClinGen ExAC gnomAD
CA45462354 rs945785893	123	Q>*		No	ClinGen Ensembl
CA346291682 rs1171684887	124	L>P		No	ClinGen gnomAD
VAR_037148 CA45462346 rs17852819	128	A>T		No	ClinGen UniProt dbSNP gnomAD
rs1229465938 CA346291634	131	I>T		No	ClinGen gnomAD
CA346291639 rs1182673529	131	I>V		No	ClinGen TOPMed
rs753175291 CA1618223	132	H>R		No	ClinGen ExAC
rs1558562792 CA346291628	132	H>Y		No	ClinGen Ensembl
CA1618222 rs768079496	133	E>*		No	ClinGen ExAC gnomAD
CA1618221 rs762436813	134	G>E		No	ClinGen ExAC gnomAD
CA346291616 rs1396304145	134	G>R		No	ClinGen gnomAD
CA346291605 rs1334205440	135	D>E		No	ClinGen gnomAD
rs749847004 CA1618220	137	V>M		No	ClinGen ExAC gnomAD
rs113868038 CA45462324	139	V>A		No	ClinGen Ensembl
rs1424729021 CA346291569	141	L>R		No	ClinGen gnomAD
rs764809329 CA1618219	142	S>L		No	ClinGen ExAC gnomAD
rs1324815943 CA346290606	144	L>V		No	ClinGen gnomAD
CA1618185 rs755389058	145	A>V		No	ClinGen ExAC gnomAD
rs368391121 CA1618184	146	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1618182 rs201224041	151	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA346290316 rs1410443638	153	R>H		No	ClinGen TOPMed gnomAD
CA45460558 rs77511217	153	R>S		No	ClinGen Ensembl
rs753446356 CA1618181	155	H>P		No	ClinGen ExAC gnomAD
rs1572673878 CA346290243	156	T>A		No	ClinGen Ensembl
rs1232053685 CA346290212	157	L>V		No	ClinGen gnomAD
rs1489059832 CA346290183	158	Y>C		No	ClinGen TOPMed
CA1618179 rs201608418	159	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1618177 rs767400781	160	H>R		No	ClinGen ExAC gnomAD
CA45460538 rs988025868	163	K>R		No	ClinGen Ensembl
CA346289845 rs1353722459	166	T>I		No	ClinGen gnomAD
CA346289747 rs1469790556	169	D>V		No	ClinGen gnomAD
CA346289676 rs1350453609	171	C>S		No	ClinGen gnomAD
CA45460523 rs927888956	171	C>W		No	ClinGen Ensembl
CA346289485 rs1407356801	176	W>*		No	ClinGen gnomAD
CA1618173 rs766397927	177	G>E		No	ClinGen ExAC gnomAD
rs1344164431 CA346289465	177	G>R		No	ClinGen TOPMed gnomAD
rs762815391 CA1618172	178	L>S		No	ClinGen ExAC gnomAD
rs1346987077 CA346289419	179	V>L		No	ClinGen gnomAD
rs190323599 CA1618171	180	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs769895724 CA1618170	182	G>A		No	ClinGen ExAC gnomAD
rs769895724 CA346289299	182	G>V		No	ClinGen ExAC gnomAD
rs1266693534 CA346289161	185	C>W		No	ClinGen gnomAD
CA1618141 rs769426305	187	G>V		No	ClinGen ExAC TOPMed gnomAD
CA346288451 rs1444573545	189	G>E		No	ClinGen TOPMed
CA346288420 rs747719233	190	L>F		No	ClinGen ExAC TOPMed gnomAD
CA45458963 rs551326545	190	L>I		No	ClinGen Ensembl
CA45458947 rs867293932	192	Y>H		No	ClinGen Ensembl
CA346288316 rs1220174534	193	H>Y		No	ClinGen TOPMed
CA1618139 rs780581949	194	K>I		No	ClinGen ExAC gnomAD
rs1450675604 CA346288217	196	C>Y		No	ClinGen gnomAD
COSM3839489 COSM3839488 rs1403694544 CA346288191	198	F>L	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1618138 rs754596742	200	I>V		No	ClinGen ExAC gnomAD
CA346288113 rs1462489626	201	P>A		No	ClinGen gnomAD
CA346288097 rs1345406741	201	P>L		No	ClinGen TOPMed gnomAD
rs200537124 CA45458944	202	N>S		No	ClinGen 1000Genomes
rs751206591 CA1618137	205	S>G		No	ClinGen ExAC
rs137924816 CA1618136	205	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs562122456 CA1618135	205	S>R		No	ClinGen 1000Genomes ExAC
CA1618133 rs765223368	206	G>A		No	ClinGen ExAC TOPMed gnomAD
rs183596097 CA1618132	207	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753893260 CA1618131	210	R>T		No	ClinGen ExAC TOPMed gnomAD
CA1618130 COSM1407998 rs62001881 COSM48702	211	R>C	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM1407996 rs201601245 CA45458857 COSM1407997	211	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA45458855 rs201601245	211	R>L		No	ClinGen TOPMed gnomAD
CA1618127 rs767900487	214	N>H		No	ClinGen ExAC gnomAD
rs1382300585 CA346287968	217	L>S		No	ClinGen gnomAD
rs1310170488 CA346287958	218	P>T		No	ClinGen gnomAD
CA346287938 rs1375193568	219	G>R		No	ClinGen gnomAD
rs528883326 CA45458820	221	G>S		No	ClinGen Ensembl
CA346287879 rs1175826287	222	L>V		No	ClinGen TOPMed
CA346287861 rs1384632161	223	S>L		No	ClinGen gnomAD
CA1618121 rs768076816	224	V>F		No	ClinGen ExAC TOPMed gnomAD
rs34280934 VAR_050561 CA1618120	225	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779610670 CA1618119	226	R>G		No	ClinGen ExAC gnomAD
CA45458780 rs934778939	227	P>L		No	ClinGen Ensembl
CA1618115 rs757118329	230	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1344207227 CA346287705	231	E>A		No	ClinGen TOPMed
rs1271220155 CA346287662	233	V>A		No	ClinGen gnomAD
CA346287622 rs1358742228	235	L>F		No	ClinGen gnomAD
rs1358742228 CA346287629	235	L>V		No	ClinGen gnomAD
CA346287593 rs1254920903 COSM48701	236	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1254920903 CA346287596	236	P>R		No	ClinGen TOPMed
CA1618112 rs756196158	236	P>S		No	ClinGen ExAC gnomAD
CA1618113 rs756196158	236	P>T		No	ClinGen ExAC gnomAD
rs950350047 CA45458709	237	S>N		No	ClinGen Ensembl
CA45458696 rs916170448	238	E>D		No	ClinGen Ensembl
CA346287516 rs1339561366	239	E>A		No	ClinGen TOPMed
rs765720090 CA1618083	240	S>L		No	ClinGen ExAC gnomAD
rs774911020 CA1618081	244	Q>R		No	ClinGen ExAC gnomAD
CA1618080 rs771600534	245	E>G		No	ClinGen ExAC gnomAD
CA346285565 rs1270625624	247	S>N		No	ClinGen gnomAD
rs1312802629 CA346285549	247	S>R		No	ClinGen TOPMed
rs1572665203 CA346285508	249	R>T		No	ClinGen Ensembl
CA1618078 rs774037988	250	I>S		No	ClinGen ExAC gnomAD
CA346285490 rs774037988	250	I>T		No	ClinGen ExAC gnomAD
CA346285480 rs1324118352	251	P>S		No	ClinGen gnomAD
rs777638992 CA1618075	253	W>C		No	ClinGen ExAC gnomAD
rs749097710 CA1618076	253	W>L		No	ClinGen ExAC TOPMed gnomAD
CA346285308 rs1572665132	257	P>A		No	ClinGen Ensembl
rs769551419 CA1618074	258	I>V		No	ClinGen ExAC TOPMed gnomAD
CA346285134 rs781376638	263	M>I		No	ClinGen ExAC TOPMed gnomAD
rs781376638 CA1618072	263	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1618073 rs201844476	263	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA45455355 rs974597349	266	C>W		No	ClinGen TOPMed gnomAD
rs1303794516 CA346285064	266	C>Y		No	ClinGen TOPMed
CA346285055 rs1208719694	267	R>G		No	ClinGen TOPMed
CA346285023 rs1170093139	268	V>M		No	ClinGen TOPMed gnomAD
rs755161693 CA1618071	273	T>I		No	ClinGen ExAC gnomAD
rs187587812 CA1618069	274	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346284867 rs1200911484	274	F>Y		No	ClinGen Ensembl
rs1231424894 CA346284808	276	V>I		No	ClinGen TOPMed
CA1618068 rs758774136	277	H>L		No	ClinGen ExAC gnomAD
CA346284753 rs1387102332	278	S>F		No	ClinGen gnomAD
rs964017787 CA45455339	278	S>T		No	ClinGen TOPMed gnomAD
CA346284712 rs1572664952	279	Y>*		No	ClinGen Ensembl
rs1558554674 CA916512951	279	Y>*		No	ClinGen Ensembl
rs1194491281 CA346284705	280	T>A		No	ClinGen TOPMed
rs1441572576 CA346284669	281	R>C		No	ClinGen gnomAD
CA1618066 rs765635743	281	R>H		No	ClinGen ExAC gnomAD
CA1618065 rs145212721	282	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346897823 CA346284628	283	T>K		No	ClinGen Ensembl
rs1273253139 CA346284588	284	I>M		No	ClinGen gnomAD
CA1618062 rs139649661	289	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1173617368 CA346284426	290	R>L		No	ClinGen TOPMed
rs1173617368 CA346284431	290	R>Q		No	ClinGen TOPMed
rs1331499029 CA346284398	291	L>F		No	ClinGen gnomAD
rs1336675698 CA346284420	291	L>I		No	ClinGen gnomAD
rs773987994 CA1618061	295	L>F		No	ClinGen ExAC gnomAD
rs984132505 CA45455307	297	R>C		No	ClinGen TOPMed gnomAD
rs984132505 CA346284261	297	R>G		No	ClinGen TOPMed gnomAD
rs141998414 CA1618060	297	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1618059 rs762673246	299	G>R		No	ClinGen ExAC gnomAD
rs1572664769 CA346284182	300	M>I		No	ClinGen Ensembl
CA1618057 rs769654399	300	M>R		No	ClinGen ExAC gnomAD
CA1618058 rs772842752	300	M>V		No	ClinGen ExAC gnomAD
rs150659116 CA45455263	301	Q>H		No	ClinGen ESP
rs776698838 CA1618035	306	K>N		No	ClinGen ExAC gnomAD
CA346326271 rs1380247488	306	K>R		No	ClinGen TOPMed
rs74599711 CA45513168	308	N>T		No	ClinGen Ensembl
rs1447206635 CA346326231	310	H>N		No	ClinGen gnomAD
rs768653905 CA1618034	310	H>R		No	ClinGen ExAC gnomAD
CA45513164 rs375439218	313	C>R		No	ClinGen gnomAD
CA1618033 rs746945127	314	A>T		No	ClinGen ExAC gnomAD
rs372915976 CA1618032	316	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs772212484 CA346326161	317	V>I		No	ClinGen ExAC gnomAD
CA1618031 rs772212484	317	V>L		No	ClinGen ExAC gnomAD
CA1618030 rs746055301	318	P>R		No	ClinGen ExAC gnomAD
CA346326132 rs1274319426	320	D>Y		No	ClinGen gnomAD
CA346326120 rs779235298	321	C>G		No	ClinGen ExAC gnomAD
CA1618029 rs779235298	321	C>R		No	ClinGen ExAC gnomAD
CA346326110 rs1572659456	322	L>V		No	ClinGen Ensembl
CA346326084 rs1347184286	324	E>D		No	ClinGen gnomAD
rs1316419368 CA346326063	326	T>I		No	ClinGen gnomAD
CA1618028 rs192490203	327	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201117785 CA1618027	328	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1431245601 CA346325966	330	E>A		No	ClinGen TOPMed
rs887553836 CA45511069	331	P>S		No	ClinGen gnomAD
rs749544379 CA1618010	332	S>C		No	ClinGen ExAC gnomAD
rs749544379 CA1618009	332	S>F		No	ClinGen ExAC gnomAD
rs778064187 CA1618008	333	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1618007 rs770194180	335	G>E		No	ClinGen ExAC gnomAD
rs748575652 CA1618006	336	T>I		No	ClinGen ExAC gnomAD
CA1618005 rs368060548	337	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA346325931 rs368060548	337	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA346325920 rs757838387	338	T>I		No	ClinGen ExAC gnomAD
rs757838387 CA1618004	338	T>K		No	ClinGen ExAC gnomAD
rs1325390732 CA346325918	339	D>H		No	ClinGen TOPMed
CA45510974 rs200326755	340	I>M		No	ClinGen 1000Genomes
rs749894949 CA1618003	340	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1618002 rs778287373	341	P>T		No	ClinGen ExAC gnomAD
rs897709941 CA45510951	342	M>I		No	ClinGen TOPMed gnomAD
CA346325891 rs1298423584	343	D>Y		No	ClinGen TOPMed
CA346325882 rs1166044857	344	I>N		No	ClinGen TOPMed gnomAD
rs1476271549 CA346325869	346	N>D		No	ClinGen gnomAD
rs753563820 CA1618000	346	N>S		No	ClinGen ExAC gnomAD
CA1617999 rs763955919	347	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1617998 rs528407289	349	I>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA45510905 rs944678387	350	N>K		No	ClinGen Ensembl
rs752571075 CA1617997	350	N>Y		No	ClinGen ExAC gnomAD
rs910535446 CA45510902	351	S>I		No	ClinGen TOPMed gnomAD
CA346325823 rs1489745375	352	D>E		No	ClinGen gnomAD
rs1376640086 CA346325825	352	D>G		No	ClinGen TOPMed gnomAD
CA1617996 COSM1222071 COSM1222070 rs767548546	355	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1302229006 COSM1668851 CA346325804 COSM1668852	355	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1196251563 CA346325783	358	D>E		No	ClinGen Ensembl
CA1617993 rs771021783	358	D>G		No	ClinGen ExAC gnomAD
rs774450180 CA1617994	358	D>Y		No	ClinGen ExAC gnomAD
rs763141753 CA1617992	360	T>R		No	ClinGen ExAC gnomAD
rs1165034191 CA346325768	361	E>Q		No	ClinGen gnomAD
rs773464935 CA1617991	362	E>V		No	ClinGen ExAC TOPMed gnomAD
rs148163511 CA1617990	364	S>T		No	ClinGen ESP ExAC gnomAD
CA346325743 rs748607140	365	P>A		No	ClinGen ExAC gnomAD
CA1617989 rs748607140	365	P>T		No	ClinGen ExAC gnomAD
rs769143531 CA346325738	366	P>A		No	ClinGen ExAC TOPMed gnomAD
rs769143531 CA1617987	366	P>S		No	ClinGen ExAC TOPMed gnomAD
CA346325729 rs1392289984	367	E>G		No	ClinGen TOPMed
CA1617985 rs62001876	368	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346325712 rs1572655223	369	K>N		No	ClinGen Ensembl
rs1242836821 CA346325703	370	M>I		No	ClinGen TOPMed gnomAD
CA346325705 rs1242836821	370	M>I		No	ClinGen TOPMed gnomAD
rs756873751 CA1617984	370	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1617983 rs377237026	371	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319751763 CA346325700	371	F>V		No	ClinGen TOPMed gnomAD
CA346325683 rs1224334377	373	L>W		No	ClinGen gnomAD
rs3770761 CA346325674	374	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1408711958 CA346325662	376	S>C		No	ClinGen TOPMed gnomAD
rs530208506 CA1617980	377	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530208506 CA1617979	377	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346325653 rs1268211485	378	L>V		No	ClinGen TOPMed
rs139524899 CA1617977	379	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs139524899 CA346325647	379	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1617975 rs766416840	380	V>G		No	ClinGen ExAC
rs763090259 CA1617974	381	E>K		No	ClinGen ExAC gnomAD
CA346325636 rs763090259	381	E>Q		No	ClinGen ExAC gnomAD
CA346325627 rs1421186194	382	R>K		No	ClinGen gnomAD
rs777010332 CA1617970	383	D>E		No	ClinGen ExAC gnomAD
rs777010332 CA1617971	383	D>E		No	ClinGen ExAC gnomAD
rs769950198 CA1617973	383	D>H		No	ClinGen ExAC gnomAD
rs769950198 CA1617972	383	D>N		No	ClinGen ExAC gnomAD
rs1182032603 CA346325619	383	D>V		No	ClinGen gnomAD
rs768920973 CA1617969	384	E>K		No	ClinGen ExAC gnomAD
CA1617966 rs200405614	385	E>K		No	ClinGen ExAC gnomAD
COSM1020764 COSM1020763 rs770559494 CA1617964	387	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1617963 rs748864206	389	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1617962 rs778144188	390	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1617961 rs367741905	391	S>C		No	ClinGen ESP ExAC gnomAD
CA346325355 rs1356669546	394	T>A		No	ClinGen TOPMed
CA1617940 rs747807513	394	T>R		No	ClinGen ExAC gnomAD
rs1175503806 CA346325349	395	S>R		No	ClinGen TOPMed gnomAD
CA346325339 rs1314283929	396	N>S		No	ClinGen TOPMed
CA346325300 rs1195665022	402	R>G		No	ClinGen gnomAD
rs763280930 CA45509168	403	V>I		No	ClinGen gnomAD
rs758295473 CA1617935	408	K>N		No	ClinGen ExAC gnomAD
CA346325254 rs1258212427	409	H>D		No	ClinGen gnomAD
rs750378615 CA1617934	411	K>E		No	ClinGen ExAC gnomAD
rs374382574 CA45509143	411	K>N		No	ClinGen ESP TOPMed gnomAD
CA346325230 rs1284962466	412	R>M		No	ClinGen TOPMed
CA346325199 rs1339636952	416	T>R		No	ClinGen gnomAD
rs757318856 CA1617931	417	M>T		No	ClinGen ExAC TOPMed gnomAD
rs765333102 CA1617932	417	M>V		No	ClinGen ExAC gnomAD
rs754084106 CA1617930	423	M>I		No	ClinGen ExAC gnomAD
rs764279746 CA1617929	426	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1230736919 CA346325131	426	Y>N		No	ClinGen gnomAD
rs1272793970 CA346325117	428	S>G		No	ClinGen Ensembl
CA1617928 rs760963725	431	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1617906 rs752095488	444	C>R		No	ClinGen ExAC gnomAD
CA1617905 rs55912911 VAR_061532	445	L>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs542117212 CA1617903	450	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA346324935 rs1186530634	451	E>D		No	ClinGen TOPMed
rs768239879 CA1617902	451	E>K		No	ClinGen ExAC gnomAD
CA346324924 COSM3426421 COSM3426420 rs1404667900	453	G>E	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346324898 rs1455457112	457	Y>H		No	ClinGen gnomAD
CA1617886 rs369937198	460	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA45506421 rs922797506	463	S>*		No	ClinGen TOPMed
CA346324816 rs1449554884	467	R>C		No	ClinGen TOPMed gnomAD
rs1449554884 COSM3407852 COSM3407853 CA346324817	467	R>G	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs571034336 CA1617885	467	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346324818 rs1449554884	467	R>S		No	ClinGen TOPMed gnomAD
CA1617884 rs145739051	468	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1617883 rs145739051	468	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346324808 rs1464884014	469	S>P		No	ClinGen gnomAD
CA1617881 rs763558963	472	R>G		No	ClinGen ExAC gnomAD
CA346324771 rs1278204783	474	F>L		No	ClinGen gnomAD
rs1215169235 CA346324769	475	T>A		No	ClinGen TOPMed gnomAD
CA1617880 rs760240985	476	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1617879 rs775107380	478	S>*		No	ClinGen ExAC gnomAD
CA346324742 rs1432780044	479	Q>P		No	ClinGen TOPMed gnomAD
CA346324741 rs1432780044	479	Q>R		No	ClinGen TOPMed gnomAD
CA1617878 rs767096029	482	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1617876 rs770781814	484	H>P		No	ClinGen ExAC gnomAD
CA1617875 rs770781814	484	H>R		No	ClinGen ExAC gnomAD
CA45506270 rs143574461	485	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1617874 rs143574461	485	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391462850 CA346324693	486	F>L		No	ClinGen TOPMed gnomAD
rs148874137 CA1617873	486	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207900846 CA346324676	489	I>F		No	ClinGen TOPMed
CA1617870 rs141082908	490	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA346324649 rs1482484300	493	M>V		No	ClinGen TOPMed gnomAD
rs747281265 CA1617868	494	V>I		No	ClinGen ExAC TOPMed gnomAD
CA346324632 rs1227803372	495	Y>C		No	ClinGen TOPMed gnomAD
CA346324635 rs1272532491	495	Y>N		No	ClinGen gnomAD
rs774634026 CA1617864	497	V>F		No	ClinGen ExAC TOPMed gnomAD
rs774634026 CA1617863	497	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1617862 rs757772152	499	E>G		No	ClinGen ExAC gnomAD
rs566328788 CA346324589	501	N>K		No	ClinGen 1000Genomes ExAC
rs767044657 CA1617860	501	N>S		No	ClinGen ExAC TOPMed
CA1617858 rs774101388	503	D>G		No	ClinGen ExAC gnomAD
rs1446257406 CA346324582	503	D>H		No	ClinGen TOPMed
rs200307175 CA45506119	504	S>R		No	ClinGen Ensembl
CA1617857 rs766083978	504	S>T		No	ClinGen ExAC gnomAD
CA1617856 COSM1185882 COSM1185881 rs762865687	505	S>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346324541 rs56291422	509	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1617855 rs56291422	509	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346324535 rs1422644465	510	L>F		No	ClinGen gnomAD
rs928644327 CA45506097	511	A>G		No	ClinGen TOPMed gnomAD
rs769789912 CA1617854	511	A>P		No	ClinGen ExAC gnomAD
CA346324527 rs1183404093	512	A>T		No	ClinGen gnomAD
rs748130565 CA1617853	513	T>I		No	ClinGen ExAC TOPMed gnomAD
CA45506075 rs959763187	514	G>V		No	ClinGen TOPMed
rs776806856 CA1617852	517	L>F		No	ClinGen ExAC gnomAD
CA346324491 rs1223650515	518	D>G		No	ClinGen gnomAD
rs377546713 CA1617851	518	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs959065545 CA45506013	519	V>I		No	ClinGen Ensembl
CA346324447 rs1207690269	524	E>G		No	ClinGen TOPMed
rs1462533537 CA346324450	524	E>Q		No	ClinGen TOPMed
rs780386418 CA1617849	527	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1286077413 COSM1020755 COSM1020754 CA346324421	528	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1408912716 CA346324420	528	R>H		No	ClinGen gnomAD
rs980137190 CA45505985	529	Q>E		No	ClinGen Ensembl
rs758672804 CA1617848	535	T>S		No	ClinGen ExAC gnomAD
CA346324358 rs1472300648	538	A>P		No	ClinGen TOPMed
rs1314316680 CA346324350	539	S>N		No	ClinGen gnomAD
CA1617847 rs746183157	540	V>D		No	ClinGen ExAC gnomAD
CA346324336 rs1572647035	541	C>S		No	ClinGen Ensembl
rs1431642749 CA346324315	544	P>L		No	ClinGen TOPMed
rs1349839086 CA346324310	545	G>E		No	ClinGen gnomAD
CA1617843 rs766991557	546	Q>H		No	ClinGen ExAC gnomAD
VAR_037149 rs17856887 CA45505954	546	Q>R		No	ClinGen UniProt Ensembl dbSNP
rs1355647523 CA346324293	548	K>R		No	ClinGen TOPMed
rs751159654 CA1617841	549	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1617840 rs766000246	550	H>D		No	ClinGen ExAC gnomAD
CA346324280 rs766000246	550	H>Y		No	ClinGen ExAC gnomAD
CA1617819 rs756592977	552	D>A		No	ClinGen ExAC gnomAD
CA346324232 rs1466238722	555	T>R		No	ClinGen TOPMed gnomAD
rs1245929996 CA346324228	556	S>G		No	ClinGen gnomAD
CA45504461 rs987414921	556	S>R		No	ClinGen TOPMed
rs779459587 CA1617816	561	N>D		No	ClinGen ExAC gnomAD
rs1297758706 CA346324177	563	Q>H		No	ClinGen gnomAD
CA1617814 rs750146050	563	Q>K		No	ClinGen ExAC gnomAD
rs765090044 CA1617813	564	I>V		No	ClinGen ExAC TOPMed gnomAD
rs761762972 CA1617812	565	Q>R		No	ClinGen ExAC gnomAD
rs764038827 CA1617810	566	E>K		No	ClinGen ExAC gnomAD
rs764038827 CA346324161	566	E>Q		No	ClinGen ExAC gnomAD
rs773574829 CA1617784	569	D>G		No	ClinGen ExAC gnomAD
CA1617785 rs763192669	569	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1283122362 CA346323961	572	T>S		No	ClinGen TOPMed
rs748654353 CA1617782	579	D>H		No	ClinGen ExAC gnomAD
rs771691579 CA1617780	581	V>M		No	ClinGen ExAC gnomAD
CA1617779 rs745319154	582	L>F		No	ClinGen ExAC gnomAD
rs778574448 CA1617778	582	L>P		No	ClinGen ExAC gnomAD
CA346323891 rs1558538020	583	G>R		No	ClinGen Ensembl
rs777604092 CA1617775	589	I>V		No	ClinGen ExAC gnomAD
CA346323846 rs1221020317	590	V>I		No	ClinGen TOPMed
CA1617730 rs769289334	593	G>E		No	ClinGen ExAC gnomAD
rs1167279278 CA346323630	595	H>L		No	ClinGen gnomAD
CA1617728 rs780940920	597	K>R		No	ClinGen ExAC gnomAD
CA1617726 rs1553368382	598	T>I		No	ClinGen Ensembl
CA346323594 rs1417677567	601	D>H		No	ClinGen gnomAD
rs1473723501 CA346323571	604	I>T		No	ClinGen TOPMed gnomAD
CA1617725 rs768477903	608	D>N		No	ClinGen ExAC TOPMed gnomAD
CA346323535 rs1176717878	609	K>M		No	ClinGen gnomAD
COSM1407981 rs1480238374 CA346323534 COSM1407980	609	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1617724 rs746941902	610	M>L		No	ClinGen ExAC TOPMed gnomAD
rs746941902 CA346323531	610	M>V		No	ClinGen ExAC TOPMed gnomAD
CA346323517 rs1433855918	612	F>I		No	ClinGen gnomAD
CA346323490 rs1265080346	615	K>N		No	ClinGen TOPMed
CA1617721 rs371184391	617	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA346323462 rs1318387166	618	S>R		No	ClinGen gnomAD
CA1617719 rs779084914	620	L>F		No	ClinGen ExAC gnomAD
CA45499904 rs1031408784	621	R>C		No	ClinGen TOPMed gnomAD
COSM246782 COSM246781 CA1617718 rs200649275	621	R>H	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs200649275 CA45499897	621	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346323422 rs2302650	622	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346323405 rs1180438948	624	V>L		No	ClinGen TOPMed
rs755416384 CA1617690	631	H>Q		No	ClinGen ExAC gnomAD
CA45493803 rs1055767104	632	H>L		No	ClinGen TOPMed
rs764645764 CA1617688	639	E>D		No	ClinGen ExAC gnomAD
rs1572614700 CA346321760	642	F>C		No	ClinGen Ensembl
CA346321741 rs761368997	644	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1617687 rs761368997	644	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1347716903 CA346321705	648	V>A		No	ClinGen gnomAD
CA45493786 rs974685912	651	V>L		No	ClinGen Ensembl
CA346321657 rs1572614641	653	E>G		No	ClinGen Ensembl
rs763666506 CA1617685	654	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1325028200 CA346321645	654	K>M		No	ClinGen TOPMed gnomAD
rs1396789487 CA346321552	661	E>D		No	ClinGen gnomAD
CA346321541 rs1357631993	662	M>I		No	ClinGen gnomAD
CA346321474 rs1558527189	669	S>R		No	ClinGen Ensembl
rs200951892 CA1617682	670	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775221567 CA1617683	670	R>W		No	ClinGen ExAC gnomAD
rs1404288610 CA346321424	674	R>*		No	ClinGen gnomAD
rs774415395 COSM3426418 CA1617680 COSM3426419	674	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1617679 rs770904039	675	I>V		No	ClinGen ExAC gnomAD
rs756354809 CA1617676	679	M>I		No	ClinGen ExAC gnomAD
CA45493732 rs1043105124	679	M>L		No	ClinGen TOPMed gnomAD
CA45493721 rs925288520	680	V>A		No	ClinGen Ensembl
CA346321350 rs1174662703	681	T>I		No	ClinGen gnomAD
rs748429273 CA1617675	682	Q>K		No	ClinGen ExAC gnomAD
CA346321280 rs1330117700	683	I>M		No	ClinGen TOPMed gnomAD
CA346321277 rs1281305118	684	L>F		No	ClinGen gnomAD
rs950362492 CA45493266	689	N>H		No	ClinGen gnomAD
rs1441618934 CA346321209	690	L>V		No	ClinGen gnomAD
CA1617649 rs747328210	691	H>P		No	ClinGen ExAC TOPMed gnomAD
CA346321197 rs747328210	691	H>R		No	ClinGen ExAC TOPMed gnomAD
CA346321181 rs1279654257	692	F>S		No	ClinGen TOPMed
CA346321156 rs1201936129	694	N>T		No	ClinGen gnomAD
CA1617648 rs780310280	695	I>T		No	ClinGen ExAC
CA346321123 rs1460549727	697	H>P		No	ClinGen gnomAD
rs750981931 CA1617646	699	D>V		No	ClinGen ExAC gnomAD
CA346321077 rs1259734600	701	K>T		No	ClinGen gnomAD
CA1617642 rs767141884	707	L>V		No	ClinGen ExAC gnomAD
rs369992288 CA1617639	712	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309470716 CA346320886	713	F>C		No	ClinGen TOPMed
rs773347162 CA1617636	715	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA45491167 rs200540104	716	V>A		No	ClinGen 1000Genomes
rs775758020 CA45491158	725	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1617613 rs775758020	725	R>G		No	ClinGen ExAC TOPMed gnomAD
rs775758020 CA1617612	725	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1428165349 CA346319875	729	E>K		No	ClinGen gnomAD
CA45491132 rs62001878	744	A>P		No	ClinGen Ensembl
rs1384565056 CA346319592	745	P>R		No	ClinGen gnomAD
rs771429519 CA1617608	745	P>S		No	ClinGen ExAC gnomAD
rs1440562217 CA346319554	749	R>Q		No	ClinGen TOPMed
rs757179385 CA1617606	749	R>W		No	ClinGen ExAC TOPMed gnomAD
rs371696914 CA346319528	751	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746659572 CA1617604	751	K>R		No	ClinGen ExAC gnomAD
rs1572604562 CA346319520	752	G>A		No	ClinGen Ensembl
CA1617602 rs758124341	754	N>I		No	ClinGen ExAC TOPMed gnomAD
rs750199145 CA1617601	755	R>C		No	ClinGen ExAC gnomAD
rs997100280 CA45491110	755	R>H		No	ClinGen Ensembl
rs1176971941 CA346319475	759	M>T		No	ClinGen TOPMed
rs765143492 CA1617600	760	W>*		No	ClinGen ExAC gnomAD
CA346319435 rs1381063960	765	I>T		No	ClinGen gnomAD
CA45491102 rs893026961	765	I>V		No	ClinGen Ensembl
CA45491098 rs1054308278	766	I>V		No	ClinGen TOPMed gnomAD
CA1617599 rs757192908	767	Y>C		No	ClinGen ExAC
rs1274796124 CA346319417	768	V>L		No	ClinGen gnomAD
rs1212598151 CA346319404	770	L>V		No	ClinGen gnomAD
CA1617597 rs753762347	772	G>D		No	ClinGen ExAC gnomAD
rs1416304907 CA346319347	778	E>A		No	ClinGen gnomAD
CA346319346 rs1416304907	778	E>G		No	ClinGen gnomAD
CA346319325 rs1352996765	781	D>H		No	ClinGen gnomAD
rs760727982 CA1617595	782	I>T		No	ClinGen ExAC gnomAD
rs1443509646 CA346319317	782	I>V		No	ClinGen gnomAD
CA346319269 rs1572604285	788	N>S		No	ClinGen Ensembl
CA346319258 rs775563833	790	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1617594 rs775563833	790	A>T		No	ClinGen ExAC TOPMed gnomAD
CA346319255 rs1235646184	790	A>V		No	ClinGen gnomAD
CA1617593 rs767660133	792	M>L		No	ClinGen ExAC TOPMed gnomAD
CA346319246 rs767660133	792	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1189392823 CA346319227	794	P>Q		No	ClinGen gnomAD
CA1617591 rs774651444	795	P>A		No	ClinGen ExAC TOPMed gnomAD
rs771251155 CA1617590	796	N>D		No	ClinGen ExAC gnomAD
rs749795647 CA1617589	796	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1375634037 CA346319210	797	P>L		No	ClinGen TOPMed
rs867018275 CA45491038	798	W>*		No	ClinGen Ensembl
rs773647940 CA1617588	798	W>R		No	ClinGen ExAC gnomAD
CA346319200 rs1234532986	799	R>G		No	ClinGen gnomAD
rs770346546 CA1617587	799	R>K		No	ClinGen ExAC TOPMed gnomAD
rs746452431 CA1617586	800	E>K		No	ClinGen ExAC gnomAD
CA346319183 rs1273633664	801	I>T		No	ClinGen gnomAD
CA1617585 rs779738826	802	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1332261282 CA346319171	803	G>D		No	ClinGen gnomAD
CA346319168 rs1223858563	804	E>K		No	ClinGen gnomAD
CA1617583 rs745562284	805	A>T		No	ClinGen ExAC gnomAD
rs1365545889 CA346318050	806	I>T		No	ClinGen Ensembl
rs1266472771 CA346318016	807	D>E		No	ClinGen gnomAD
CA1617544 rs765680797	808	L>V		No	ClinGen ExAC TOPMed gnomAD
CA45489031 rs917847522	815	V>M		No	ClinGen TOPMed
rs374375446 CA1617542	816	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349143176 CA346317789	817	M>I		No	ClinGen gnomAD
rs771697868 CA1617541	817	M>K		No	ClinGen ExAC gnomAD
rs759062988 CA1617540	820	R>C		No	ClinGen ExAC gnomAD
rs1190447993 CA346317746	820	R>H		No	ClinGen TOPMed
rs773920283 CA1617539	824	D>E		No	ClinGen ExAC gnomAD
CA346317673 rs1330858981	824	D>G		No	ClinGen gnomAD
rs1431354930 CA346317665	825	K>R		No	ClinGen TOPMed
rs1292662626 CA346317643	827	L>V		No	ClinGen gnomAD
CA1617538 rs770450325	830	P>A		No	ClinGen ExAC gnomAD
rs770450325 CA346317608	830	P>S		No	ClinGen ExAC gnomAD
CA346317588 rs1435413708	831	W>L		No	ClinGen gnomAD
rs1288301296 CA346317600	831	W>R		No	ClinGen gnomAD
CA346317439 rs1475352117	834	D>H		No	ClinGen gnomAD
rs934635425 CA45488289	836	Q>P		No	ClinGen TOPMed gnomAD
CA1617516 rs773686678	837	T>I		No	ClinGen ExAC gnomAD
CA346317317 rs1324262284	841	L>V		No	ClinGen TOPMed gnomAD
rs1251873275 CA346317290	842	R>T		No	ClinGen gnomAD
rs1371028419 CA346317248	844	F>S		No	ClinGen TOPMed
CA1617513 rs772985780	847	R>C		No	ClinGen ExAC TOPMed gnomAD
rs772985780 CA1617514	847	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1405945703 CA346317189 COSM1565574 COSM1565575	847	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1617511 rs559394565	848	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1617512 rs769449366	848	I>V		No	ClinGen ExAC gnomAD
CA1617510 rs776442361	849	G>E		No	ClinGen ExAC gnomAD
rs1291458533 CA346317138	850	E>D		No	ClinGen TOPMed gnomAD
CA346317126 COSM302993 rs1205229960 COSM302994	851	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1365972864 CA346317100	852	Y>*		No	ClinGen TOPMed
CA346317109 rs1244168548	852	Y>S		No	ClinGen gnomAD
CA45488260 rs964878208	858	D>G		No	ClinGen TOPMed
CA346317049 rs1344927108	858	D>H		No	ClinGen TOPMed
CA346316997 rs1423934183	861	R>C		No	ClinGen gnomAD
rs779962811 CA1617507	861	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1617506 rs367746070	864	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1617505 rs746067667	865	H>R		No	ClinGen ExAC gnomAD
CA346316929 rs1572593138	865	H>Y		No	ClinGen Ensembl
CA1617503 rs757562032	868	T>A		No	ClinGen ExAC gnomAD
rs754218304 CA1617502	868	T>R		No	ClinGen ExAC gnomAD
CA346316843 rs1184562181	869	H>Q		No	ClinGen TOPMed gnomAD
rs1023735330 CA45488219	869	H>Y		No	ClinGen Ensembl
CA346316790 rs1237906651	872	V>A		No	ClinGen gnomAD
CA346316772 rs1469938925	873	Y>C		No	ClinGen gnomAD
CA1617500 rs756556191	873	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA346316744 rs910687378	874	P>L		No	ClinGen TOPMed gnomAD
CA45488184 rs910687378	874	P>R		No	ClinGen TOPMed gnomAD
rs765804242 CA1617498	877	F>V		No	ClinGen ExAC TOPMed gnomAD
rs762464896 CA1617497	878	I>T		No	ClinGen ExAC TOPMed gnomAD
CA346316658 rs1374597686	879	M>T		No	ClinGen gnomAD
CA346316666 rs1166847998	879	M>V		No	ClinGen TOPMed
rs772601204 CA1617495	880	A>P		No	ClinGen ExAC gnomAD
rs201573573 CA1617494	881	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA45488177 rs888648394	882	N>H		No	ClinGen Ensembl
rs141147191 CA1617493	882	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346316600 rs1405989889	883	P>S		No	ClinGen TOPMed
CA45488172 COSM1318905 COSM1318906 rs1047294632	884	D>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1404438804 CA346316582	885	D>N		No	ClinGen gnomAD
CA1617490 rs575223074	886	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1617491 rs575223074	886	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1617492 rs776384643	886	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1617489 rs775553768	887	E>V		No	ClinGen ExAC gnomAD
CA346316528 rs1380234072	888	E>*		No	ClinGen TOPMed gnomAD
CA346316463 rs1455847560	890	P>L		No	ClinGen TOPMed gnomAD

No associated diseases with O94806

9 regional properties for O94806

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	73 - 330	IPR000719-1
domain	Protein kinase domain	426 - 683	IPR000719-2
domain	AGC-kinase, C-terminal	331 - 400	IPR000961
active_site	Serine/threonine-protein kinase, active site	194 - 206	IPR008271-1
active_site	Serine/threonine-protein kinase, active site	539 - 551	IPR008271-2
binding_site	Protein kinase, ATP binding site	79 - 105	IPR017441-1
binding_site	Protein kinase, ATP binding site	432 - 455	IPR017441-2
domain	Protein kinase, C-terminal	354 - 390	IPR017892
domain	Ribosomal S6 kinase, N-terminal catalytic domain	77 - 391	IPR041906

Functions

		Description
EC Number	2.7.11.13	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Membrane	Translocation to the cell membrane is required for kinase activation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calcium-dependent protein kinase C activity	Calcium-dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein.
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
metal ion binding	Binding to a metal ion.
protein kinase C activity	Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires diacylglycerol.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine 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.

4 GO annotations of biological process

Name	Definition
protein kinase C-activating G protein-coupled receptor signaling pathway	The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds with activation of protein kinase C (PKC). PKC is activated by second messengers including diacylglycerol (DAG).
protein kinase D signaling	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase D, which occurs as a result of a single trigger reaction or compound.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
sphingolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BZL6	PRKD2	Serine/threonine-protein kinase D2	Homo sapiens (Human)	SS
Q15139	PRKD1	Serine/threonine-protein kinase D1	Homo sapiens (Human)	EV
Q62101	Prkd1	Serine/threonine-protein kinase D1	Mus musculus (Mouse)	SS
Q8BZ03	Prkd2	Serine/threonine-protein kinase D2	Mus musculus (Mouse)	SS
Q8K1Y2	Prkd3	Serine/threonine-protein kinase D3	Mus musculus (Mouse)	SS
Q9WTQ1	Prkd1	Serine/threonine-protein kinase D1	Rattus norvegicus (Rat)	SS
Q5XIS9	Prkd2	Serine/threonine-protein kinase D2	Rattus norvegicus (Rat)	SS
O45818	dkf-2	Serine/threonine-protein kinase dkf-2	Caenorhabditis elegans	SS

10	20	30	40	50	60
MSANNSPPSA	QKSVLPTAIP	AVLPAASPCS	SPKTGLSARL	SNGSFSAPSL	TNSRGSVHTV
70	80	90	100	110	120
SFLLQIGLTR	ESVTIEAQEL	SLSAVKDLVC	SIVYQKFPEC	GFFGMYDKIL	LFRHDMNSEN
130	140	150	160	170	180
ILQLITSADE	IHEGDLVEVV	LSALATVEDF	QIRPHTLYVH	SYKAPTFCDY	CGEMLWGLVR
190	200	210	220	230	240
QGLKCEGCGL	NYHKRCAFKI	PNNCSGVRKR	RLSNVSLPGP	GLSVPRPLQP	EYVALPSEES
250	260	270	280	290	300
HVHQEPSKRI	PSWSGRPIWM	EKMVMCRVKV	PHTFAVHSYT	RPTICQYCKR	LLKGLFRQGM
310	320	330	340	350	360
QCKDCKFNCH	KRCASKVPRD	CLGEVTFNGE	PSSLGTDTDI	PMDIDNNDIN	SDSSRGLDDT
370	380	390	400	410	420
EEPSPPEDKM	FFLDPSDLDV	ERDEEAVKTI	SPSTSNNIPL	MRVVQSIKHT	KRKSSTMVKE
430	440	450	460	470	480
GWMVHYTSRD	NLRKRHYWRL	DSKCLTLFQN	ESGSKYYKEI	PLSEILRISS	PRDFTNISQG
490	500	510	520	530	540
SNPHCFEIIT	DTMVYFVGEN	NGDSSHNPVL	AATGVGLDVA	QSWEKAIRQA	LMPVTPQASV
550	560	570	580	590	600
CTSPGQGKDH	KDLSTSISVS	NCQIQENVDI	STVYQIFADE	VLGSGQFGIV	YGGKHRKTGR
610	620	630	640	650	660
DVAIKVIDKM	RFPTKQESQL	RNEVAILQNL	HHPGIVNLEC	MFETPERVFV	VMEKLHGDML
670	680	690	700	710	720
EMILSSEKSR	LPERITKFMV	TQILVALRNL	HFKNIVHCDL	KPENVLLASA	EPFPQVKLCD
730	740	750	760	770	780
FGFARIIGEK	SFRRSVVGTP	AYLAPEVLRS	KGYNRSLDMW	SVGVIIYVSL	SGTFPFNEDE
790	800	810	820	830	840
DINDQIQNAA	FMYPPNPWRE	ISGEAIDLIN	NLLQVKMRKR	YSVDKSLSHP	WLQDYQTWLD
850	860	870	880
LREFETRIGE	RYITHESDDA	RWEIHAYTHN	LVYPKHFIMA	PNPDDMEEDP