ADK

adenosine kinase

Summary

This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Known Variants135 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11817132	10:75,910,955	G/C	—	benign
rs971684446	10:75,911,057	G/C	—	uncertain significance
rs2549273807	10:75,911,070	A/G	—	uncertain significance
rs11000897	10:75,911,276	C/A	—	benign
rs10762577	10:75,917,431	A/T	—	—
rs571962706	10:75,936,233	G/A	—	likely benign
rs886047232	10:75,936,371	A/T	—	uncertain significance
rs1036870011	10:75,936,389	G/A	—	uncertain significance
rs192064997	10:75,936,416	T/C	—	likely benign
rs886047233	10:75,936,439	G/C	—	uncertain significance
rs886047234	10:75,936,513	G/T	—	uncertain significance
rs1842356778	10:75,936,555	G/T	—	uncertain significance
rs886047235	10:75,936,556	T/C	—	uncertain significance
rs10824095	10:75,936,611	C/T	—	benign
rs370191448	10:75,936,637	T/A	—	uncertain significance
rs1002041671	10:75,936,662	G/A	—	likely benign
rs754598889	10:75,936,664	C/T	—	likely benign
rs7097778	10:75,951,509	A/G	intron variant	—
rs12569971	10:75,954,375	T/C	intron variant	—
rs12252558	10:75,960,446	A/T	—	benign
rs1271395440	10:75,960,527	A/T	—	uncertain significance
rs755289664	10:75,960,534	C/G	—	likely benign
rs2549333028	10:75,960,541	A/G	—	uncertain significance
rs397514454	10:75,960,545	G/A	missense variant	pathogenic
rs1209019375	10:75,960,549	T/C	—	likely benign
rs373721303	10:75,960,616	T/C	—	likely benign
rs72816396	10:75,973,294	A/G	—	—
rs11510969	10:75,978,644	A/C	—	—
rs11000930	10:75,982,982	G/C	intron variant	—
rs753135671	10:75,984,280	C/T	—	likely benign
rs1381252671	10:75,984,290	A/T	—	likely benign
rs372338209	10:75,984,291	T/C	—	likely benign
rs1844455477	10:75,984,310	C/T	—	uncertain significance
rs745774033	10:75,984,312	A/G	—	uncertain significance
rs1302443324	10:75,984,337	A/G	—	uncertain significance
rs4564273	10:75,989,912	C/G	—	—
rs7895133	10:76,007,455	A/T	intron variant	—
rs4376843	10:76,030,088	C/G	intron variant	—
rs12098284	10:76,047,464	C/T	intron variant	—
rs112921972	10:76,054,961	C/T	intron variant	—
rs144492760	10:76,074,407	G/A	—	likely benign
rs756956429	10:76,074,408	C/T	—	likely benign
rs1233228682	10:76,074,409	T/C	—	likely benign
rs1194483230	10:76,074,425	G/A	—	conflicting classifications of pathogenicity
rs201786575	10:76,074,450	A/G	—	uncertain significance
rs372669372	10:76,074,452	A/G	—	likely benign
rs2549457774	10:76,074,477	A/C	—	uncertain significance
rs201734294	10:76,074,489	A/G	—	uncertain significance
rs779328407	10:76,074,513	T/A	—	likely benign
rs11000993	10:76,084,111	T/C	intron variant	—
rs10824161	10:76,133,762	C/T	—	—
rs200027642	10:76,153,890	G/T	—	likely benign
rs2547866919	10:76,153,902	A/T	—	uncertain significance
rs987068529	10:76,153,940	A/G	—	likely benign
rs2547867047	10:76,153,999	T/C	—	uncertain significance
rs772902599	10:76,154,000	G/C	—	likely benign
rs367937485	10:76,154,015	C/T	—	likely benign
rs113318057	10:76,154,016	G/A	—	uncertain significance
rs148712301	10:76,154,051	A/G	—	likely benign
rs2547867129	10:76,154,053	G/A	—	uncertain significance
rs142477111	10:76,154,054	C/T	—	conflicting classifications of pathogenicity
rs746933712	10:76,154,059	C/G	—	uncertain significance
rs886047236	10:76,154,066	C/T	—	uncertain significance
rs2126763	10:76,158,177	C/T	—	benign
rs759122074	10:76,158,222	G/T	—	likely benign
rs1203540701	10:76,158,261	G/T	—	uncertain significance
rs1219524919	10:76,158,276	A/C	—	uncertain significance
rs189646840	10:76,158,283	T/A	—	likely benign
rs377764709	10:76,158,332	A/G	—	uncertain significance
rs2169683	10:76,158,518	T/C	—	benign
rs10740436	10:76,194,655	T/A	—	—
rs561207313	10:76,285,008	A/G	—	likely benign
rs2133621185	10:76,285,078	A/C	—	uncertain significance
rs900753287	10:76,285,089	A/T	—	uncertain significance
rs201810555	10:76,285,109	G/A	—	likely benign
rs767645195	10:76,285,136	A/G	—	likely benign
rs2548024136	10:76,285,137	T/C	—	likely benign
rs903876857	10:76,285,141	T/C	—	uncertain significance
rs397514453	10:76,285,162	A/C	missense variant	pathogenic
rs16931480	10:76,285,163	T/C	—	benign
rs757880793	10:76,285,177	A/G	—	uncertain significance
rs45529443	10:76,285,195	T/G	—	likely benign
rs57811130	10:76,285,298	G/A	—	benign
rs7924176	10:76,295,789	A/G	intron variant	—
rs2548094316	10:76,349,022	T/G	—	likely benign
rs12778270	10:76,349,029	T/C	—	benign
rs786205458	10:76,349,054	T/A	missense variant	pathogenic
rs2548094484	10:76,349,088	A/G	—	likely benign
rs754686824	10:76,349,092	T/C	—	likely benign
rs368042471	10:76,355,485	G/A	—	—
rs11001078	10:76,360,022	C/T	—	benign
rs780824505	10:76,360,128	T/C	—	uncertain significance
rs372010404	10:76,360,129	A/G	—	likely benign
rs777313272	10:76,360,146	A/G	—	uncertain significance
rs770932896	10:76,360,166	G/C	—	uncertain significance
rs140798258	10:76,360,175	C/T	—	likely benign
rs541758866	10:76,360,239	A/G	—	uncertain significance
rs755803752	10:76,360,262	G/A	—	likely benign
rs138519360	10:76,414,147	C/T	upstream gene variant	—
rs10740443	10:76,429,870	T/C	—	benign

Showing 100 of 135 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.