DGKD

diacylglycerol kinase delta

Summary

This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1260799159	2:234,263,187	C/T	—	uncertain significance
rs995107287	2:234,263,188	T/A	—	likely benign
rs1216021251	2:234,263,189	C/G	—	uncertain significance
rs1229827757	2:234,263,192	C/G	—	uncertain significance
rs747669327	2:234,263,198	C/A	—	conflicting classifications of pathogenicity
rs776523076	2:234,263,208	C/G	—	uncertain significance
rs763301780	2:234,263,213	C/A	—	uncertain significance
rs774345130	2:234,263,215	G/A	—	likely benign
rs750944437	2:234,263,262	C/T	—	uncertain significance
rs1550532	2:234,264,848	C/G	upstream gene variant	—
rs34339006	2:234,271,522	C/T	intron variant	—
rs838705	2:234,273,242	G/A	intron variant	—
rs55664157	2:234,274,654	T/A	intron variant	—
rs60485593	2:234,279,261	G/C	intron variant	—
rs56201966	2:234,285,243	A/G	downstream gene variant	—
rs4663580	2:234,293,861	C/T	regulatory region variant	—
rs838716	2:234,294,791	G/A	—	—
rs372521831	2:234,296,940	A/G	—	uncertain significance
rs763217681	2:234,299,052	A/G	—	uncertain significance
rs142882603	2:234,301,439	A/G	downstream gene variant	—
rs838720	2:234,303,281	C/G	regulatory region variant	—
rs6759355	2:234,303,337	C/G	—	—
rs838735	2:234,324,192	G/T	—	—
rs371849616	2:234,343,123	A/C	—	uncertain significance
rs1178156155	2:234,343,423	G/C	—	uncertain significance
rs386352297	2:234,343,433	G/A	—	uncertain significance
rs377274788	2:234,343,450	G/A	—	uncertain significance
rs770550183	2:234,343,494	A/G	—	uncertain significance
rs578036955	2:234,343,502	C/T	—	uncertain significance
rs773098886	2:234,344,465	G/A	—	likely benign
rs1304664772	2:234,344,526	A/G	—	uncertain significance
rs761121633	2:234,345,007	G/T	—	uncertain significance
rs754117375	2:234,345,019	G/A	—	uncertain significance
rs746365249	2:234,346,033	C/T	—	uncertain significance
rs148849509	2:234,346,916	G/A	—	uncertain significance
rs767771309	2:234,346,920	A/G	—	uncertain significance
rs369752765	2:234,346,968	A/G	—	uncertain significance
rs751901063	2:234,350,594	G/A	—	uncertain significance
rs552826683	2:234,350,608	C/T	—	benign
rs144742201	2:234,354,292	C/T	—	benign
rs2305541	2:234,354,320	C/T	—	likely benign
rs369685273	2:234,355,364	C/T	—	likely benign
rs375904433	2:234,355,402	C/T	—	uncertain significance
rs200394822	2:234,355,413	G/A	—	uncertain significance
rs10208953	2:234,356,807	G/A	—	benign
rs754997374	2:234,356,821	C/T	—	uncertain significance
rs2470082160	2:234,356,950	G/A	—	uncertain significance
rs1214798620	2:234,356,993	C/T	—	uncertain significance
rs748263202	2:234,356,994	G/A	—	likely benign
rs74761374	2:234,357,031	C/T	—	benign
rs1172873512	2:234,357,789	C/G	—	uncertain significance
rs765268127	2:234,357,814	G/A	—	likely benign
rs2228937	2:234,357,838	C/G	—	likely benign
rs887356277	2:234,357,899	G/C	—	uncertain significance
rs1294563312	2:234,357,925	G/A	—	likely benign
rs113483143	2:234,357,944	C/T	—	uncertain significance
rs751388605	2:234,357,945	G/A	—	uncertain significance
rs754093994	2:234,357,951	G/C	—	uncertain significance
rs369697514	2:234,358,737	C/T	—	likely benign
rs753570385	2:234,358,738	G/A	—	uncertain significance
rs372743022	2:234,358,747	G/A	—	uncertain significance
rs753841886	2:234,358,772	G/A	—	uncertain significance
rs542787940	2:234,359,655	G/A	—	uncertain significance
rs559849900	2:234,359,657	G/C	—	uncertain significance
rs113452563	2:234,359,663	C/T	—	benign
rs910462619	2:234,359,670	C/T	—	uncertain significance
rs1380098117	2:234,360,616	G/A	—	uncertain significance
rs145038453	2:234,360,642	G/A	—	uncertain significance
rs1296019180	2:234,363,421	G/A	—	likely benign
rs762400407	2:234,363,426	A/G	—	uncertain significance
rs58864422	2:234,363,529	A/G	—	benign
rs374982750	2:234,365,873	G/A	—	uncertain significance
rs756821372	2:234,365,935	C/T	—	likely benign
rs2470175121	2:234,366,958	A/G	—	uncertain significance
rs2063523864	2:234,367,015	T/C	—	uncertain significance
rs61739478	2:234,367,022	A/G	—	benign
rs765978079	2:234,367,038	G/A	—	uncertain significance
rs200836252	2:234,368,410	C/T	—	likely benign
rs2470188561	2:234,368,450	G/A	—	likely benign
rs114591819	2:234,368,459	C/T	—	likely benign
rs61752229	2:234,368,468	C/T	—	likely benign
rs2470195177	2:234,368,921	G/A	—	likely benign
rs147134923	2:234,368,935	G/A	—	conflicting classifications of pathogenicity
rs765017713	2:234,370,999	G/A	—	uncertain significance
rs775202239	2:234,371,077	G/A	—	uncertain significance
rs201384247	2:234,371,296	A/G	—	benign
rs562774636	2:234,371,335	C/G	—	uncertain significance
rs2228939	2:234,371,351	G/A	—	benign
rs202046773	2:234,372,831	G/A	—	uncertain significance
rs771282230	2:234,372,892	C/T	—	uncertain significance
rs149090615	2:234,372,897	C/T	—	uncertain significance
rs775753182	2:234,372,898	T/A	—	uncertain significance
rs151057884	2:234,372,918	G/T	—	likely benign
rs142472360	2:234,372,920	C/T	—	likely benign
rs2470257069	2:234,375,735	G/A	—	uncertain significance
rs1293167095	2:234,375,751	C/T	—	uncertain significance
rs527978237	2:234,376,184	G/A	—	—
rs139714904	2:234,377,063	C/T	—	benign
rs139085833	2:234,377,185	C/T	missense variant	—
rs2470268628	2:234,377,198	A/G	—	uncertain significance

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.