EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2

Summary

The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021]

Known Variants141 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1260783592	2:37,334,427	G/A	—	uncertain significance
rs372618188	2:37,334,429	C/T	—	uncertain significance
rs2466895308	2:37,334,441	T/C	—	uncertain significance
rs1424023304	2:37,334,467	G/A	—	likely benign
rs772232356	2:37,334,475	G/C	—	likely benign
rs2466895698	2:37,334,513	G/A	—	uncertain significance
rs779631229	2:37,334,534	G/A	—	uncertain significance
rs1242391031	2:37,334,552	G/A	—	likely benign
rs768805126	2:37,334,646	T/C	—	uncertain significance
rs2466896675	2:37,334,652	C/T	—	uncertain significance
rs1037354438	2:37,334,654	C/T	—	uncertain significance
rs761814238	2:37,334,655	G/A	—	uncertain significance
rs766201667	2:37,334,675	A/G	—	likely benign
rs752198346	2:37,336,321	T/C	—	likely benign
rs376530608	2:37,336,400	G/A	—	likely benign
rs2307469	2:37,336,403	G/C	—	benign
rs967135397	2:37,336,405	G/T	—	uncertain significance
rs774118494	2:37,336,430	C/T	—	likely benign
rs1572996700	2:37,336,434	G/C	—	conflicting classifications of pathogenicity
rs370235809	2:37,336,448	C/T	—	likely benign
rs7577041	2:37,339,084	A/C	intron variant	—
rs151137328	2:37,341,854	A/C	—	benign
rs2466922230	2:37,341,899	G/A	—	uncertain significance
rs753148148	2:37,341,920	T/C	—	benign
rs975022412	2:37,341,926	T/A	—	uncertain significance
rs2466922392	2:37,341,928	A/G	—	uncertain significance
rs2466922428	2:37,341,938	G/C	—	uncertain significance
rs200748103	2:37,341,970	T/C	—	uncertain significance
rs2466922613	2:37,341,972	G/C	—	likely benign
rs768191204	2:37,341,973	T/C	—	benign
rs1194818208	2:37,341,979	A/T	—	uncertain significance
rs772883798	2:37,342,018	A/T	—	likely benign
rs1439383730	2:37,347,085	G/T	—	likely benign
rs2466941804	2:37,347,142	T/C	—	uncertain significance
rs778283176	2:37,347,200	C/T	—	likely benign
rs1404726266	2:37,347,220	C/A	—	uncertain significance
rs765503875	2:37,347,221	A/T	—	uncertain significance
rs1573007419	2:37,347,287	G/T	—	likely benign
rs563220138	2:37,347,293	A/G	—	likely benign
rs1674591230	2:37,349,644	G/A	—	uncertain significance
rs2465285321	2:37,349,648	C/T	—	uncertain significance
rs763208496	2:37,349,677	C/T	—	uncertain significance
rs111395561	2:37,349,690	C/T	—	benign
rs759463816	2:37,349,691	T/C	—	uncertain significance
rs1674593979	2:37,349,704	C/T	—	uncertain significance
rs947114741	2:37,349,733	T/C	—	uncertain significance
rs1573010519	2:37,349,743	C/T	—	conflicting classifications of pathogenicity
rs1674595991	2:37,349,745	T/C	—	conflicting classifications of pathogenicity
rs1674596244	2:37,349,760	T/C	—	likely benign
rs1241155849	2:37,349,764	C/T	—	uncertain significance
rs2465286117	2:37,349,766	T/C	—	uncertain significance
rs757791378	2:37,349,776	T/C	—	conflicting classifications of pathogenicity
rs770329106	2:37,349,796	C/T	—	uncertain significance
rs771182529	2:37,349,801	C/T	—	likely benign
rs1435222223	2:37,353,415	A/G	—	likely benign
rs200941283	2:37,353,434	G/A	—	benign
rs769466033	2:37,353,441	T/C	—	uncertain significance
rs779362072	2:37,353,449	A/G	—	conflicting classifications of pathogenicity
rs2307478	2:37,353,464	A/G	—	benign
rs2465299248	2:37,353,469	T/C	—	uncertain significance
rs139014739	2:37,353,472	C/T	—	likely benign
rs374360324	2:37,353,507	A/T	—	uncertain significance
rs2465299498	2:37,353,546	A/G	—	likely benign
rs2465299556	2:37,353,573	T/G	—	likely benign
rs4233921	2:37,354,149	G/T	—	—
rs77795433	2:37,360,731	C/A	intron variant	—
rs750967413	2:37,362,629	C/T	—	benign
rs998218202	2:37,362,642	T/C	—	uncertain significance
rs1158595807	2:37,362,649	T/A	—	uncertain significance
rs780589797	2:37,362,658	T/C	—	uncertain significance
rs1342269502	2:37,364,116	T/A	—	likely benign
rs1558422864	2:37,364,126	C/A	—	uncertain significance
rs2465331300	2:37,364,129	T/C	—	uncertain significance
rs2465331391	2:37,364,145	T/C	—	uncertain significance
rs746662577	2:37,364,159	T/C	—	uncertain significance
rs2465331511	2:37,364,173	A/T	—	likely benign
rs1356364314	2:37,365,408	G/A	—	uncertain significance
rs768474501	2:37,365,419	C/T	—	likely benign
rs145778655	2:37,365,422	C/T	—	likely benign
rs368648580	2:37,365,429	C/T	—	uncertain significance
rs374251302	2:37,365,454	T/G	—	uncertain significance
rs1675200099	2:37,365,455	T/C	—	uncertain significance
rs2465336063	2:37,365,478	A/T	—	uncertain significance
rs1176833341	2:37,365,503	A/G	—	likely benign
rs779876696	2:37,365,505	C/T	—	uncertain significance
rs149581029	2:37,365,506	G/A	—	uncertain significance
rs371637500	2:37,365,518	G/C	—	likely benign
rs540324762	2:37,365,634	T/C	—	likely benign
rs2307484	2:37,365,640	G/A	—	benign
rs1358240975	2:37,365,655	G/A	—	conflicting classifications of pathogenicity
rs2465336734	2:37,365,657	G/T	—	uncertain significance
rs62001883	2:37,365,660	G/C	—	likely benign
rs1211296397	2:37,365,661	G/T	—	likely benign
rs114027780	2:37,365,670	G/C	—	likely benign
rs770476926	2:37,365,688	C/G	—	uncertain significance
rs777019137	2:37,365,695	T/C	—	uncertain significance
rs762000896	2:37,365,706	C/T	—	uncertain significance
rs151305286	2:37,365,724	G/C	—	likely benign
rs2465337124	2:37,365,738	A/C	—	uncertain significance
rs770879483	2:37,366,781	G/A	—	uncertain significance

Showing 100 of 141 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.