PRKCD

protein kinase C delta

Summary

The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]

Known Variants448 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs149243678	3:53,205,007	G/A	regulatory region variant	—
rs56972966	3:53,212,179	C/T	—	benign
rs112724859	3:53,212,212	C/A	—	benign
rs2306570	3:53,212,383	C/T	—	benign
rs781958692	3:53,212,443	C/T	—	uncertain significance
rs1273815639	3:53,212,444	G/A	—	likely benign
rs1354110835	3:53,212,447	G/A	—	likely benign
rs373946656	3:53,212,459	C/T	—	likely benign
rs368029897	3:53,212,460	G/A	—	uncertain significance
rs1575532463	3:53,212,468	C/A	—	uncertain significance
rs369358922	3:53,212,482	G/C	—	uncertain significance
rs2107253193	3:53,212,494	C/T	—	uncertain significance
rs377115507	3:53,212,495	C/G	—	likely benign
rs369037399	3:53,212,501	C/T	—	likely benign
rs1553666417	3:53,212,502	G/A	—	uncertain significance
rs144572650	3:53,212,506	C/T	—	conflicting classifications of pathogenicity
rs782592704	3:53,212,507	G/A	—	likely benign
rs782362492	3:53,212,525	C/T	—	likely benign
rs1703300399	3:53,212,526	G/A	—	uncertain significance
rs1437451277	3:53,212,528	G/C	—	likely benign
rs2471077676	3:53,212,531	G/C	—	uncertain significance
rs141615361	3:53,212,543	G/A	—	likely benign
rs782712864	3:53,212,562	G/A	—	likely benign
rs781949983	3:53,212,567	C/G	—	benign
rs2306571	3:53,212,574	G/C	—	benign
rs17052826	3:53,212,716	T/C	—	benign
rs2035451	3:53,213,538	G/C	—	benign
rs782445373	3:53,213,576	G/A	—	likely benign
rs1703347409	3:53,213,586	G/C	—	likely benign
rs376358631	3:53,213,596	G/A	—	uncertain significance
rs1553666756	3:53,213,617	A/C	—	uncertain significance
rs2471079943	3:53,213,618	G/C	—	uncertain significance
rs1398084548	3:53,213,628	A/G	—	uncertain significance
rs1165650015	3:53,213,629	T/C	—	uncertain significance
rs913175157	3:53,213,647	C/T	—	uncertain significance
rs782264326	3:53,213,648	G/A	—	likely benign
rs55719519	3:53,213,651	G/A	—	likely benign
rs369306770	3:53,213,654	C/T	—	likely benign
rs2230493	3:53,213,657	T/C	—	benign
rs1438592483	3:53,213,664	A/G	—	uncertain significance
rs2107256827	3:53,213,666	C/T	—	likely benign
rs1196790794	3:53,213,672	G/C	—	uncertain significance
rs188610371	3:53,213,678	C/T	—	likely benign
rs781950537	3:53,213,679	G/A	—	uncertain significance
rs151061939	3:53,213,691	G/A	—	uncertain significance
rs782144950	3:53,213,694	C/T	—	likely benign
rs781815061	3:53,213,702	G/C	—	likely benign
rs781855123	3:53,213,717	A/G	—	likely benign
rs782530190	3:53,213,720	G/C	—	likely benign
rs1327842167	3:53,213,727	G/T	—	uncertain significance
rs782661116	3:53,213,732	C/T	—	likely benign
rs782298081	3:53,213,733	G/A	—	uncertain significance
rs782433548	3:53,213,741	G/T	—	likely benign
rs782581303	3:53,213,743	C/T	—	uncertain significance
rs782214291	3:53,213,744	G/A	—	conflicting classifications of pathogenicity
rs1015113720	3:53,213,745	G/A	—	uncertain significance
rs79725471	3:53,213,748	C/T	—	likely benign
rs782352450	3:53,213,753	C/T	—	likely benign
rs963574725	3:53,213,757	C/T	—	uncertain significance
rs2107257357	3:53,213,762	C/A	—	pathogenic
rs1238886300	3:53,213,764	A/G	—	uncertain significance
rs561142814	3:53,213,774	T/A	—	uncertain significance
rs782734100	3:53,213,777	C/A	—	likely benign
rs2107257453	3:53,213,782	C/T	—	uncertain significance
rs1553666898	3:53,213,786	G/A	—	likely benign
rs2107257487	3:53,213,792	G/A	—	conflicting classifications of pathogenicity
rs1559623472	3:53,213,799	G/A	—	likely benign
rs2471080625	3:53,213,800	G/T	—	likely benign
rs200076653	3:53,213,801	C/A	—	likely benign
rs782548097	3:53,213,802	G/A	—	likely benign
rs782704224	3:53,213,805	C/T	—	likely benign
rs782245021	3:53,213,808	G/A	—	likely benign
rs1553666914	3:53,213,809	C/T	—	likely benign
rs782523277	3:53,213,810	C/T	—	likely benign
rs1703363074	3:53,213,811	G/A	—	likely benign
rs11130349	3:53,213,970	T/C	—	benign
rs2242305	3:53,215,141	C/A	—	benign
rs2471084215	3:53,215,216	C/T	—	likely benign
rs1703426668	3:53,215,239	A/G	—	uncertain significance
rs1383705446	3:53,215,246	G/A	—	likely benign
rs2107261818	3:53,215,247	G/C	—	uncertain significance
rs2471084310	3:53,215,250	T/C	—	likely benign
rs374573652	3:53,215,255	G/A	—	uncertain significance
rs782114906	3:53,215,267	T/C	—	likely benign
rs148137939	3:53,215,279	C/T	—	likely benign
rs370069134	3:53,215,280	G/A	—	uncertain significance
rs1553667410	3:53,215,283	G/T	—	uncertain significance
rs2107261999	3:53,215,289	A/G	—	uncertain significance
rs2107262029	3:53,215,292	T/C	—	likely benign
rs2471084677	3:53,215,295	C/T	—	likely benign
rs781826392	3:53,215,296	T/G	—	likely benign
rs782500976	3:53,215,298	G/T	—	likely benign
rs782642410	3:53,215,299	G/T	—	benign
rs181439333	3:53,215,448	C/T	—	likely benign
rs782061483	3:53,215,450	T/C	—	uncertain significance
rs372103939	3:53,215,453	T/A	—	uncertain significance
rs1339098133	3:53,215,467	A/G	—	likely benign
rs79252610	3:53,215,472	C/T	—	uncertain significance
rs375221270	3:53,215,477	C/T	—	uncertain significance
rs200939049	3:53,215,478	G/A	—	likely benign

Showing 100 of 448 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.