DGUOK

deoxyguanosine kinase

Summary

In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants287 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs831526	2:74,153,905	C/T	—	benign
rs753666732	2:74,153,984	C/A	—	uncertain significance
rs10186730	2:74,153,990	G/A	—	likely benign
rs200333852	2:74,154,017	G/T	—	uncertain significance
rs1210425272	2:74,154,028	C/T	—	likely benign
rs369681767	2:74,154,030	T/C	—	uncertain significance
rs756028511	2:74,154,033	G/A	—	likely benign
rs753441865	2:74,154,036	G/T	—	likely benign
rs754623273	2:74,154,037	G/A	—	conflicting classifications of pathogenicity
rs747744094	2:74,154,038	A/G	—	pathogenic
rs757874547	2:74,154,039	T/C	—	pathogenic
rs534297082	2:74,154,040	G/A	—	pathogenic
rs147551003	2:74,154,041	G/T	—	conflicting classifications of pathogenicity
rs1680626720	2:74,154,043	C/G	—	likely benign
rs1309022733	2:74,154,044	G/T	—	uncertain significance
rs781275867	2:74,154,045	C/G	—	conflicting classifications of pathogenicity
rs1306395752	2:74,154,046	G/T	—	conflicting classifications of pathogenicity
rs977157089	2:74,154,050	C/T	—	uncertain significance
rs775274523	2:74,154,051	G/A	—	uncertain significance
rs1367381552	2:74,154,052	C/T	—	likely benign
rs770100935	2:74,154,053	C/T	—	uncertain significance
rs372855715	2:74,154,054	T/A	—	uncertain significance
rs1054034625	2:74,154,055	C/G	—	likely benign
rs140284468	2:74,154,059	C/G	—	uncertain significance
rs1275164494	2:74,154,061	A/G	—	likely benign
rs1261020106	2:74,154,065	C/T	—	uncertain significance
rs1449407491	2:74,154,079	C/G	—	likely benign
rs1680635523	2:74,154,081	T/A	—	uncertain significance
rs766122973	2:74,154,083	A/G	—	uncertain significance
rs373080538	2:74,154,084	G/T	—	uncertain significance
rs759230630	2:74,154,087	C/G	—	uncertain significance
rs1403205461	2:74,154,088	C/A	—	likely benign
rs1005365646	2:74,154,089	A/G	—	uncertain significance
rs143349800	2:74,154,093	C/T	—	uncertain significance
rs1680638357	2:74,154,094	C/G	—	likely benign
rs961313523	2:74,154,097	G/A	—	conflicting classifications of pathogenicity
rs2466941430	2:74,154,101	C/G	—	uncertain significance
rs757962437	2:74,154,102	C/T	—	uncertain significance
rs1275115471	2:74,154,106	C/G	—	likely benign
rs1230821323	2:74,154,107	G/C	—	uncertain significance
rs752089956	2:74,154,112	C/A	—	likely benign
rs1300589513	2:74,154,117	C/T	—	uncertain significance
rs1680641362	2:74,154,118	C/T	—	likely benign
rs2466941733	2:74,154,121	C/T	—	likely benign
rs1189821412	2:74,154,129	G/C	—	uncertain significance
rs549112717	2:74,154,130	C/A	—	likely benign
rs2466941999	2:74,154,136	C/T	—	likely benign
rs2466942019	2:74,154,137	G/A	—	uncertain significance
rs139369863	2:74,154,138	C/T	—	uncertain significance
rs567256433	2:74,154,139	G/A	—	likely benign
rs1309035513	2:74,154,149	C/A	—	uncertain significance
rs770951285	2:74,154,152	C/G	—	uncertain significance
rs2466942349	2:74,154,157	G/A	—	likely benign
rs145252858	2:74,154,160	C/G	—	likely benign
rs910614083	2:74,154,164	A/G	—	uncertain significance
rs762550967	2:74,154,167	G/A	missense variant	pathogenic
rs1215907347	2:74,154,173	A/G	—	uncertain significance
rs763615602	2:74,154,174	A/G	missense variant	pathogenic
rs1487792792	2:74,154,176	A/G	—	uncertain significance
rs1573490202	2:74,154,178	T/G	—	uncertain significance
rs2466942669	2:74,154,183	A/C	—	likely pathogenic
rs947457548	2:74,154,187	C/T	—	likely benign
rs377000908	2:74,154,188	C/T	—	likely benign
rs2466942817	2:74,154,192	A/C	—	likely benign
rs2466942846	2:74,154,195	C/A	—	likely benign
rs2466942878	2:74,154,197	G/A	—	likely benign
rs1472936403	2:74,154,199	T/C	—	likely benign
rs831527	2:74,165,856	G/A	—	benign
rs1681681568	2:74,166,018	C/T	—	likely benign
rs2466997518	2:74,166,020	T/C	—	likely benign
rs1681682280	2:74,166,022	C/G	—	likely benign
rs777673086	2:74,166,023	T/C	—	likely benign
rs1297282002	2:74,166,024	A/G	—	likely benign
rs2466997614	2:74,166,027	T/G	—	uncertain significance
rs1573526874	2:74,166,030	A/G	—	likely benign
rs745839646	2:74,166,031	T/C	—	uncertain significance
rs544350167	2:74,166,033	G/A	—	conflicting classifications of pathogenicity
rs1681684655	2:74,166,036	G/A	—	likely pathogenic
rs1064794680	2:74,166,046	A/G	—	uncertain significance
rs1204316787	2:74,166,049	C/T	—	pathogenic
rs62641680	2:74,166,053	A/G	—	benign
rs1241473255	2:74,166,056	T/C	—	likely benign
rs2466997885	2:74,166,065	A/G	—	likely benign
rs1188053375	2:74,166,067	T/C	—	likely pathogenic
rs1422549893	2:74,166,068	C/G	—	likely benign
rs144907403	2:74,166,070	C/G	—	uncertain significance
rs1176518098	2:74,166,071	G/A	—	likely benign
rs879255617	2:74,166,080	C/A	stop gained	pathogenic
rs772552133	2:74,166,083	A/C	—	likely benign
rs140307681	2:74,166,089	G/A	—	pathogenic
rs906420974	2:74,166,091	A/T	—	uncertain significance
rs138034585	2:74,166,092	C/A	—	uncertain significance
rs62641679	2:74,166,093	G/A	—	conflicting classifications of pathogenicity
rs560564448	2:74,166,100	C/T	—	uncertain significance
rs184770596	2:74,166,105	C/G	missense variant	uncertain significance
rs2466998289	2:74,166,107	T/G	—	likely benign
rs1285250719	2:74,166,112	C/G	—	uncertain significance
rs2466998379	2:74,166,119	G/A	—	pathogenic
rs2466998390	2:74,166,120	C/T	—	pathogenic
rs940941896	2:74,166,129	C/T	—	pathogenic

Showing 100 of 287 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.