PRKD1

protein kinase D1

Summary

The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]

Known Variants158 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs150599710	14:30,046,460	C/T	—	likely benign
rs139896732	14:30,046,465	A/C	—	likely benign
rs45582934	14:30,046,511	T/C	—	benign
rs45585836	14:30,046,526	T/C	—	benign
rs1479389213	14:30,046,557	G/A	—	uncertain significance
rs541601115	14:30,046,560	C/T	—	uncertain significance
rs150018148	14:30,046,564	T/C	—	likely benign
rs559828373	14:30,046,610	C/T	—	uncertain significance
rs143388121	14:30,046,618	G/A	—	likely benign
rs569529923	14:30,046,619	A/T	—	likely benign
rs369158333	14:30,046,661	T/A	—	uncertain significance
rs1892631424	14:30,047,503	G/T	—	uncertain significance
rs552127303	14:30,047,544	C/T	—	benign
rs371574935	14:30,047,548	T/C	—	uncertain significance
rs2138942108	14:30,047,558	G/C	—	uncertain significance
rs2273815	14:30,047,580	C/T	—	benign
rs139355024	14:30,066,709	T/C	—	likely benign
rs55654917	14:30,066,761	G/A	—	likely benign
rs201010570	14:30,066,796	C/T	—	likely benign
rs773846561	14:30,066,840	A/C	—	uncertain significance
rs771765508	14:30,066,847	G/A	—	uncertain significance
rs760442308	14:30,066,851	G/A	—	uncertain significance
rs2502443335	14:30,066,861	T/C	—	uncertain significance
rs752897300	14:30,066,912	C/T	—	uncertain significance
rs377604896	14:30,066,923	C/T	—	likely benign
rs2230505	14:30,066,929	A/G	—	benign
rs749621467	14:30,066,936	C/T	—	uncertain significance
rs2502443944	14:30,066,949	A/G	—	uncertain significance
rs2502443964	14:30,066,958	G/A	—	uncertain significance
rs3783299	14:30,066,976	A/T	—	benign
rs2273813	14:30,068,194	T/G	—	benign
rs1893415243	14:30,068,245	A/C	—	uncertain significance
rs2139012188	14:30,068,265	C/T	—	conflicting classifications of pathogenicity
rs764301676	14:30,068,297	T/C	—	uncertain significance
rs1893419059	14:30,068,342	G/T	—	uncertain significance
rs2502452921	14:30,068,914	G/A	—	uncertain significance
rs1314441475	14:30,068,924	T/C	—	uncertain significance
rs193921103	14:30,068,936	C/T	—	uncertain significance
rs55996071	14:30,068,976	C/T	—	likely benign
rs565275870	14:30,068,982	A/C	—	uncertain significance
rs149460336	14:30,069,008	C/T	—	uncertain significance
rs2333604	14:30,071,738	C/T	—	—
rs4981711	14:30,074,001	T/C	intron variant	—
rs2333607	14:30,078,920	A/T	—	—
rs8019731	14:30,079,965	A/T	—	—
rs12431702	14:30,088,138	C/G	—	—
rs2139090218	14:30,093,356	A/T	—	likely pathogenic
rs1337747894	14:30,093,366	T/C	—	uncertain significance
rs1469866177	14:30,093,381	G/A	—	uncertain significance
rs746086535	14:30,093,389	C/A	—	uncertain significance
rs201154555	14:30,093,411	G/A	—	uncertain significance
rs776034417	14:30,093,455	C/T	—	conflicting classifications of pathogenicity
rs2502543328	14:30,095,696	A/C	—	uncertain significance
rs1424987869	14:30,095,712	T/C	—	likely benign
rs1057519635	14:30,095,714	C/T	missense variant	pathogenic
rs1419164715	14:30,095,734	G/A	—	benign
rs1191601	14:30,098,349	T/G	intron variant	—
rs375956203	14:30,099,969	C/T	—	uncertain significance
rs755213384	14:30,099,972	C/T	—	uncertain significance
rs2502557348	14:30,099,987	G/A	—	uncertain significance
rs143339301	14:30,099,993	C/T	—	likely benign
rs375056616	14:30,099,994	G/A	—	likely benign
rs199654740	14:30,100,011	G/T	—	uncertain significance
rs764016558	14:30,100,035	C/T	—	uncertain significance
rs369255115	14:30,100,050	C/T	—	uncertain significance
rs370296777	14:30,100,133	G/A	—	uncertain significance
rs191202207	14:30,100,143	C/T	—	likely benign
rs142868862	14:30,100,164	C/T	—	uncertain significance
rs151073459	14:30,100,179	C/T	—	likely benign
rs1879967756	14:30,100,182	A/G	—	uncertain significance
rs140912004	14:30,100,200	G/A	—	benign
rs200000096	14:30,102,069	T/C	—	likely benign
rs147948478	14:30,102,111	G/A	—	conflicting classifications of pathogenicity
rs1181038822	14:30,102,145	C/T	—	uncertain significance
rs1439477100	14:30,102,151	C/T	—	likely pathogenic
rs74503963	14:30,102,160	A/G	—	benign
rs2502569694	14:30,103,634	T/C	—	uncertain significance
rs149202871	14:30,103,637	C/G	—	uncertain significance
rs374628064	14:30,103,654	C/A	—	uncertain significance
rs752208291	14:30,103,668	T/C	—	uncertain significance
rs2139123640	14:30,103,725	G/C	—	uncertain significance
rs45577438	14:30,103,753	G/A	—	benign
rs143477228	14:30,105,518	C/T	—	uncertain significance
rs55831426	14:30,105,546	G/A	—	likely benign
rs1880371038	14:30,105,549	A/C	—	uncertain significance
rs779000463	14:30,105,558	C/A	—	uncertain significance
rs144613015	14:30,105,572	T/C	—	conflicting classifications of pathogenicity
rs769155297	14:30,105,598	G/A	—	uncertain significance
rs371554413	14:30,105,606	C/G	—	uncertain significance
rs1425147156	14:30,105,625	C/T	—	uncertain significance
rs45460991	14:30,105,665	T/G	—	benign
rs1039655744	14:30,105,677	A/G	—	uncertain significance
rs2502584410	14:30,107,698	C/T	—	uncertain significance
rs1453283811	14:30,107,720	G/A	—	likely benign
rs2273807	14:30,107,738	C/T	—	benign
rs760459161	14:30,107,749	G/A	—	uncertain significance
rs2139136006	14:30,107,758	A/C	—	uncertain significance
rs201539683	14:30,107,779	C/T	—	benign
rs368658281	14:30,107,902	T/C	—	uncertain significance
rs1057519636	14:30,107,911	A/C	missense variant	pathogenic

Showing 100 of 158 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.