EIF2AK1

eukaryotic translation initiation factor 2 alpha kinase 1

Summary

The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Known Variants146 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs372782357	7:6,064,312	C/T	—	uncertain significance
rs149769030	7:6,064,328	G/A	—	likely benign
rs145785371	7:6,064,341	C/A	—	uncertain significance
rs370337163	7:6,064,372	T/G	—	uncertain significance
rs1787690452	7:6,064,397	T/A	—	uncertain significance
rs1175954321	7:6,064,399	G/C	—	uncertain significance
rs377721813	7:6,064,426	G/A	—	conflicting classifications of pathogenicity
rs1787757135	7:6,066,340	G/C	—	likely benign
rs1014150943	7:6,066,344	A/G	—	likely benign
rs1374347789	7:6,066,374	G/A	—	likely benign
rs2536870832	7:6,066,382	C/T	—	uncertain significance
rs2536870846	7:6,066,386	C/A	—	uncertain significance
rs142183790	7:6,066,396	T/C	—	uncertain significance
rs2640	7:6,066,450	T/C	—	benign
rs2639	7:6,066,461	T/C	—	benign
rs746822296	7:6,066,478	G/C	—	uncertain significance
rs769767887	7:6,066,485	C/T	—	likely benign
rs748922084	7:6,066,486	G/A	—	uncertain significance
rs767750021	7:6,066,501	C/G	—	uncertain significance
rs2536871266	7:6,066,522	G/A	—	uncertain significance
rs150082701	7:6,066,545	C/G	—	likely benign
rs746593448	7:6,066,574	C/G	—	uncertain significance
rs142683877	7:6,066,606	A/G	—	benign
rs759847990	7:6,068,256	T/C	—	uncertain significance
rs776153903	7:6,068,260	C/G	—	uncertain significance
rs566395713	7:6,068,266	C/A	—	uncertain significance
rs2536874527	7:6,068,275	G/A	—	uncertain significance
rs138548924	7:6,068,282	T/G	—	likely benign
rs751164433	7:6,068,287	C/T	—	uncertain significance
rs149262605	7:6,068,288	G/A	—	likely benign
rs779885923	7:6,068,312	C/T	—	likely benign
rs747079321	7:6,068,333	C/A	—	likely benign
rs182474233	7:6,068,336	T/A	—	likely benign
rs746043505	7:6,068,345	C/T	—	uncertain significance
rs919476884	7:6,068,539	A/G	—	likely benign
rs2536875284	7:6,068,549	T/A	—	uncertain significance
rs377675878	7:6,068,556	G/A	—	likely benign
rs781391399	7:6,068,560	C/T	—	uncertain significance
rs1583476032	7:6,068,594	C/T	—	uncertain significance
rs144104736	7:6,068,601	G/A	—	likely benign
rs1583476115	7:6,068,654	T/C	—	uncertain significance
rs374126722	7:6,068,683	G/A	—	likely benign
rs111446081	7:6,072,093	C/T	regulatory region variant	—
rs2536895730	7:6,077,041	T/C	—	likely benign
rs180691080	7:6,077,066	G/A	—	uncertain significance
rs1389865893	7:6,077,169	A/C	—	likely benign
rs116211001	7:6,077,173	T/A	—	benign
rs368350259	7:6,078,181	T/G	—	likely benign
rs779914531	7:6,078,201	G/A	—	likely benign
rs141016436	7:6,078,215	G/A	—	uncertain significance
rs777179285	7:6,078,220	C/T	—	uncertain significance
rs142287286	7:6,078,221	G/A	—	uncertain significance
rs571992660	7:6,078,231	C/T	—	benign
rs767052621	7:6,078,234	G/A	—	likely benign
rs61731537	7:6,078,248	A/G	—	benign
rs1025660699	7:6,078,273	C/T	—	likely benign
rs2128888556	7:6,078,278	T/C	—	uncertain significance
rs749872778	7:6,078,298	T/C	—	uncertain significance
rs114898004	7:6,080,540	A/C	—	benign
rs759205881	7:6,080,548	T/C	—	uncertain significance
rs1788279227	7:6,080,569	G/A	—	uncertain significance
rs140364200	7:6,080,602	C/T	—	uncertain significance
rs973646266	7:6,080,609	G/A	—	uncertain significance
rs144096212	7:6,080,630	T/C	—	uncertain significance
rs777309214	7:6,080,637	G/A	—	likely benign
rs2536902619	7:6,080,651	C/G	—	uncertain significance
rs34909691	7:6,080,686	A/T	—	benign
rs2536902794	7:6,080,706	G/A	—	likely benign
rs1348713109	7:6,080,713	T/C	—	conflicting classifications of pathogenicity
rs140285220	7:6,080,760	T/C	—	likely benign
rs776764273	7:6,080,770	C/T	—	uncertain significance
rs143036043	7:6,080,771	G/A	—	uncertain significance
rs745353670	7:6,080,806	A/G	—	likely benign
rs148186626	7:6,080,828	C/T	—	uncertain significance
rs866192500	7:6,080,839	C/A	—	uncertain significance
rs369540263	7:6,080,843	A/G	—	uncertain significance
rs200281427	7:6,082,605	C/T	—	likely benign
rs774747594	7:6,082,610	T/C	—	uncertain significance
rs150312555	7:6,084,208	C/T	—	uncertain significance
rs778845195	7:6,084,211	G/A	—	uncertain significance
rs138001475	7:6,084,230	G/A	—	likely benign
rs756978925	7:6,084,274	C/A	—	uncertain significance
rs2536910741	7:6,084,292	C/G	—	uncertain significance
rs511969	7:6,084,310	G/T	—	benign
rs2536913517	7:6,085,690	T/A	—	likely benign
rs767365918	7:6,085,722	T/C	—	uncertain significance
rs766176042	7:6,085,733	A/G	—	uncertain significance
rs758345751	7:6,085,739	A/G	—	uncertain significance
rs138377344	7:6,085,749	T/A	—	uncertain significance
rs185786356	7:6,085,753	A/G	—	likely benign
rs1475198866	7:6,085,778	C/G	—	uncertain significance
rs558719169	7:6,086,132	C/T	—	—
rs41282676	7:6,086,610	C/T	—	uncertain significance
rs41282679	7:6,086,617	G/A	—	likely benign
rs2536915395	7:6,086,627	T/C	—	uncertain significance
rs774595713	7:6,086,661	C/G	—	uncertain significance
rs200306250	7:6,086,687	C/T	—	uncertain significance
rs554601543	7:6,086,707	G/A	—	likely benign
rs1387396476	7:6,086,735	T/C	—	likely benign
rs376964054	7:6,086,737	C/T	—	likely benign

Showing 100 of 146 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.