EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

Summary

This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]

Known Variants333 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7272945215:40,226,020G/A—benign
rs7272945315:40,226,022G/A—likely benign
rs11721012415:40,226,040A/G—likely benign
rs50828015:40,226,291G/A—benign
rs50828115:40,226,294A/G—benign
rs78017500115:40,226,407G/C—uncertain significance
rs250451199915:40,226,437A/C—uncertain significance
rs92273481515:40,226,443C/T—uncertain significance
rs36981711715:40,226,444G/A—likely benign
rs37276139215:40,226,456G/A—likely benign
rs37499185315:40,226,471C/T—likely benign
rs55326904915:40,226,483C/T—likely benign
rs56679215:40,226,495T/C—benign
rs77004205315:40,226,498C/T—likely benign
rs141704476115:40,226,502G/T—uncertain significance
rs77100770615:40,226,511C/G—uncertain significance
rs37261510315:40,226,521G/A—uncertain significance
rs52591015:40,231,500A/G—benign
rs52424015:40,231,625A/T—benign
rs159553940315:40,231,704A/G—pathogenic
rs77249326215:40,231,733G/C—uncertain significance
rs20009867915:40,231,779T/C—uncertain significance
rs75107384015:40,231,780G/A—likely benign
rs37127633015:40,231,822A/C—likely pathogenic
rs50020015:40,232,001C/A—benign
rs3451304015:40,235,234C/T—benign
rs5928708315:40,235,573G/T—benign
rs76385444315:40,235,574C/T—likely benign
rs76532036215:40,235,580C/A—likely benign
rs77020529815:40,235,616G/A—uncertain significance
rs77380528015:40,235,618C/G—uncertain significance
rs250452405615:40,235,627G/T—pathogenic
rs37026676515:40,235,690A/G—uncertain significance
rs7845708215:40,235,986G/A—benign
rs52761015:40,235,994A/G—benign
rs716926615:40,241,137A/G—benign
rs76269018215:40,241,323A/G—uncertain significance
rs1154318515:40,241,376C/T—likely benign
rs74893165615:40,241,436G/A—likely benign
rs3443970415:40,241,452C/T—conflicting classifications of pathogenicity
rs20099665615:40,241,486G/A—likely benign
rs1697003515:40,245,836A/C—benign
rs7338438515:40,245,849A/G—benign
rs1772060415:40,245,926A/G—benign
rs18676893815:40,246,136G/A—likely benign
rs19106474415:40,246,149A/G—benign
rs8022265015:40,246,389A/G—benign
rs50383015:40,247,689A/G—benign
rs75820091215:40,247,852A/G—likely benign
rs19980786815:40,247,894C/G—conflicting classifications of pathogenicity
rs75831058115:40,247,915C/T—uncertain significance
rs103757031615:40,247,935G/A—uncertain significance
rs803002515:40,248,122G/A—benign
rs53650315:40,253,674G/A—benign
rs54809115:40,253,723C/G—benign
rs143627615:40,253,743G/T—benign
rs54718315:40,253,819C/T—benign
rs1772096415:40,253,886G/A—benign
rs74927489815:40,253,973T/A—uncertain significance
rs20191833315:40,253,974T/G—likely benign
rs20214040215:40,253,986C/Tstop gainedpathogenic
rs130616694615:40,253,989G/A—uncertain significance
rs36834100115:40,253,993G/A—uncertain significance
rs20170284515:40,254,107A/G—benign
rs57750688915:40,254,117A/C—likely benign
rs51094915:40,254,155A/G—benign
rs50920015:40,254,332T/C—benign
rs803593015:40,257,603G/A—benign
rs47202715:40,257,615A/G—benign
rs88603766115:40,257,886G/A—pathogenic
rs132357534415:40,257,991G/A—uncertain significance
rs75209448015:40,258,010A/C—uncertain significance
rs7338850415:40,258,329A/C—benign
rs52293315:40,259,504G/A—benign
rs117362941815:40,259,542C/T—uncertain significance
rs20007835115:40,259,562A/G—benign
rs76800689015:40,259,570A/G—likely benign
rs91703522415:40,259,599G/A—likely benign
rs75005501215:40,259,605C/T—uncertain significance
rs77318497915:40,259,638G/A—uncertain significance
rs76755739115:40,259,656A/G—conflicting classifications of pathogenicity
rs250455664015:40,259,744C/G—uncertain significance
rs37089210315:40,259,783A/G—uncertain significance
rs20090037615:40,259,792T/G—likely benign
rs229162715:40,259,848A/C—benign
rs37415265415:40,259,853G/A—likely benign
rs54151078115:40,259,870A/G—uncertain significance
rs76235887315:40,259,878G/A—uncertain significance
rs116564952515:40,259,908C/G—uncertain significance
rs58777710715:40,259,914C/Tstop gainedpathogenic
rs130394447215:40,259,915G/A—uncertain significance
rs75013663915:40,259,951C/T—uncertain significance
rs137893839815:40,259,974C/T—uncertain significance
rs36772660615:40,259,975G/A—uncertain significance
rs7338850815:40,260,002G/A—benign
rs20039334415:40,260,064C/G—likely benign
rs124996209215:40,260,075A/G—likely benign
rs456613015:40,260,208C/T—benign
rs14782354115:40,260,216G/A—likely benign
rs7338851015:40,260,323G/A—benign

Showing 100 of 333 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.