EFL1

elongation factor like GTPase 1

Summary

Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and cytosolic ribosome assembly. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytosol. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants407 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56841184515:82,422,729G/A—likely benign
rs76362423615:82,422,745T/C—uncertain significance
rs20211005715:82,422,789C/T—likely benign
rs37609552215:82,422,793C/Tmissense variantpathogenic
rs75931816215:82,422,794G/A—uncertain significance
rs76502313815:82,422,800C/T—uncertain significance
rs75261526115:82,422,801G/A—likely benign
rs144279234815:82,422,806T/G—uncertain significance
rs250525487915:82,422,810C/T—likely benign
rs143193789115:82,422,813C/A—likely benign
rs144850918015:82,422,816G/A—likely benign
rs148461562015:82,422,843C/T—likely benign
rs207362834015:82,422,844C/T—uncertain significance
rs78083606815:82,422,858T/C—likely benign
rs74550821115:82,422,869T/A—uncertain significance
rs75649416415:82,422,872T/C—conflicting classifications of pathogenicity
rs207362888015:82,422,874G/A—uncertain significance
rs74979442515:82,422,885G/A—likely benign
rs97903062315:82,422,918G/A—likely benign
rs11185884415:82,430,979A/T—likely benign
rs207375070715:82,430,983G/C—likely benign
rs74963484215:82,431,007G/A—uncertain significance
rs20044974715:82,431,009C/T—uncertain significance
rs77950547915:82,431,020T/A—uncertain significance
rs20151722315:82,431,056T/C—likely benign
rs77685979415:82,431,068A/T—likely benign
rs37156400115:82,431,089C/G—likely benign
rs128373260415:82,431,094C/T—uncertain significance
rs207375286615:82,431,103T/C—uncertain significance
rs74994500915:82,431,112T/A—uncertain significance
rs141407679315:82,431,131T/C—likely benign
rs7274952715:82,431,145C/T—likely benign
rs18799109515:82,431,147C/T—uncertain significance
rs36950326515:82,431,170A/G—likely benign
rs159593573915:82,431,180C/T—uncertain significance
rs245749715:82,431,219A/G—benign
rs118791884515:82,443,791C/T—uncertain significance
rs131309447515:82,443,796T/A—likely benign
rs76560454215:82,443,806C/T—uncertain significance
rs75348309615:82,443,809G/C—uncertain significance
rs77808470515:82,443,815C/G—uncertain significance
rs7866441315:82,443,824C/T—likely benign
rs18956927815:82,443,828G/A—likely benign
rs53226426015:82,443,830T/C—uncertain significance
rs74785344715:82,443,831G/A—likely benign
rs77191417415:82,443,836A/C—uncertain significance
rs20045123615:82,443,845T/C—uncertain significance
rs138206790215:82,443,848C/T—uncertain significance
rs250530726815:82,443,855C/T—likely benign
rs76474717815:82,443,859C/T—uncertain significance
rs37604910815:82,443,860G/A—uncertain significance
rs77522206015:82,443,861C/T—likely benign
rs20173163915:82,443,866G/A—uncertain significance
rs90062188415:82,443,867T/C—likely benign
rs120174487515:82,443,886C/T—uncertain significance
rs75780884715:82,443,887G/A—uncertain significance
rs146492350815:82,443,891T/C—likely benign
rs37768201315:82,443,893C/A—uncertain significance
rs250530754515:82,443,901A/C—uncertain significance
rs75896533415:82,443,904G/C—uncertain significance
rs78008223415:82,443,912T/C—likely benign
rs74953466115:82,443,913A/T—uncertain significance
rs37093245915:82,443,921T/C—likely benign
rs77777213215:82,443,923A/T—uncertain significance
rs145778109315:82,443,929G/T—uncertain significance
rs37624761815:82,443,934T/G—uncertain significance
rs472515:82,443,939G/A—benign
rs77500018415:82,443,953A/T—uncertain significance
rs76272401615:82,443,954T/A—uncertain significance
rs102443888815:82,443,956C/G—uncertain significance
rs250530804315:82,443,975C/T—likely benign
rs207390936115:82,443,992A/G—uncertain significance
rs76796492915:82,444,000T/G—uncertain significance
rs75094175115:82,444,002T/C—likely benign
rs207390962315:82,444,008C/A—uncertain significance
rs37115978615:82,444,011T/C—likely benign
rs129429798215:82,444,023T/G—likely benign
rs214122819715:82,444,044T/G—uncertain significance
rs207391028215:82,444,050C/T—likely benign
rs136481867215:82,444,053T/A—likely benign
rs130481788915:82,444,056C/T—likely benign
rs250530848315:82,444,057T/C—uncertain significance
rs75528031015:82,444,062T/C—likely benign
rs14622536315:82,444,090A/G—uncertain significance
rs250530868715:82,444,093T/G—uncertain significance
rs140646309415:82,444,094T/C—uncertain significance
rs250530879315:82,444,112C/T—uncertain significance
rs74588476115:82,444,118C/G—uncertain significance
rs117933293215:82,444,134G/A—likely benign
rs214122836215:82,444,148A/C—pathogenic
rs131661593415:82,444,150A/T—uncertain significance
rs77401636415:82,444,153G/A—uncertain significance
rs7274953215:82,444,154G/C—uncertain significance
rs207391241615:82,444,163G/T—uncertain significance
rs76130615015:82,444,164G/C—likely benign
rs19973738415:82,444,170T/C—likely benign
rs37198046215:82,444,173T/C—likely benign
rs20115020715:82,444,183C/T—uncertain significance
rs20166620215:82,444,198C/A—uncertain significance
rs76549521615:82,444,206T/C—likely benign

Showing 100 of 407 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.