VARS2

valyl-tRNA synthetase 2, mitochondrial

Summary

This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Known Variants428 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1382140476:30,881,799T/A—likely benign
rs10179866796:30,882,113G/A—likely benign
rs10575215746:30,882,135G/C—likely benign
rs12643066:30,882,203T/C—benign
rs14347506466:30,882,208C/T—uncertain significance
rs9482003086:30,882,210C/T—uncertain significance
rs14109525886:30,882,235G/T—uncertain significance
rs13628166906:30,882,241G/A—uncertain significance
rs12643056:30,882,277C/T—benign
rs12643046:30,882,415C/T—benign
rs32188316:30,882,431C/T—benign
rs1931507896:30,882,506T/C—likely benign
rs12643036:30,882,513A/G—benign
rs1856052806:30,882,565G/A—likely benign
rs12706983686:30,882,566C/G—likely benign
rs12128403176:30,882,586G/T—uncertain significance
rs7597553396:30,882,621A/G—uncertain significance
rs25386181266:30,882,627C/A—uncertain significance
rs7657617796:30,882,631C/T—likely benign
rs12643026:30,882,634C/T—benign
rs1456948636:30,882,636C/A—uncertain significance
rs7685250156:30,882,682C/A—likely benign
rs69262246:30,882,689C/T—benign
rs14407841666:30,882,694C/T—likely benign
rs7761044436:30,882,713C/G—uncertain significance
rs1995344416:30,882,717A/G—uncertain significance
rs25386191036:30,882,718T/C—likely benign
rs25386191506:30,882,722T/C—uncertain significance
rs7815001716:30,882,737A/C—likely benign
rs7505901706:30,882,755C/G—uncertain significance
rs7481573906:30,882,774A/C—uncertain significance
rs12643016:30,882,781G/T—benign
rs17940601086:30,882,793T/G—likely benign
rs7702947096:30,882,795A/C—uncertain significance
rs69267236:30,882,803G/A—benign
rs12643006:30,882,856A/G—benign
rs3753762796:30,882,914T/C—likely benign
rs14370994326:30,882,929T/C—likely benign
rs14515651876:30,882,982A/G—uncertain significance
rs7688822956:30,882,994C/T—uncertain significance
rs7676956266:30,883,006A/G—uncertain significance
rs3679603446:30,883,017A/G—conflicting classifications of pathogenicity
rs7489102546:30,883,118C/G—likely benign
rs7691332756:30,883,143C/T—uncertain significance
rs7791326146:30,883,146C/G—uncertain significance
rs7738172486:30,883,152C/T—uncertain significance
rs1998581346:30,883,163C/T—likely benign
rs17940902846:30,883,167C/G—uncertain significance
rs17940923646:30,883,192C/G—uncertain significance
rs7640042136:30,883,203C/A—likely benign
rs12500797256:30,883,227T/C—uncertain significance
rs1844360506:30,883,231A/G—likely benign
rs13755359556:30,883,526C/T—uncertain significance
rs7605945806:30,883,527G/A—uncertain significance
rs13370436926:30,883,546G/A—likely benign
rs7662471296:30,883,551C/A—uncertain significance
rs1414089306:30,883,561G/A—likely benign
rs1508630686:30,883,589T/C—conflicting classifications of pathogenicity
rs7580109836:30,883,607G/A—uncertain significance
rs3749997346:30,883,615G/A—likely benign
rs3699769066:30,883,620C/G—uncertain significance
rs13473566836:30,883,633C/T—likely benign
rs7663388836:30,883,640C/T—uncertain significance
rs7765859176:30,883,641G/A—uncertain significance
rs14522756836:30,883,750T/C—likely benign
rs1395157276:30,883,762C/T—conflicting classifications of pathogenicity
rs7566582786:30,883,784T/C—uncertain significance
rs7483422936:30,883,821A/G—benign
rs25386285686:30,883,822C/T—pathogenic
rs3768694446:30,883,837T/C—likely benign
rs1392936356:30,883,902G/T—likely benign
rs12642996:30,883,920C/T—benign
rs7669333576:30,883,922A/C—likely benign
rs7789634996:30,883,937G/A—likely benign
rs7586557466:30,883,947C/T—likely benign
rs13335712436:30,883,959C/T—uncertain significance
rs12427613876:30,883,960G/C—uncertain significance
rs734301356:30,883,962G/A—benign
rs7457030506:30,883,963G/T—uncertain significance
rs1473820266:30,883,969G/C—uncertain significance
rs5446097836:30,883,986C/T—uncertain significance
rs2008417626:30,883,991G/A—likely benign
rs2011609706:30,883,994C/T—likely benign
rs5377942026:30,883,996T/G—uncertain significance
rs25386304046:30,884,022G/T—pathogenic
rs7600263306:30,884,026C/T—uncertain significance
rs10177643546:30,884,027G/A—likely pathogenic
rs3715836676:30,884,044G/T—likely benign
rs1461142156:30,884,200G/A—benign
rs412668766:30,884,251G/A—benign
rs92622876:30,884,253G/A—benign
rs412680366:30,884,255A/T—benign
rs5605357866:30,884,273A/T—likely benign
rs12642986:30,884,436A/G—benign
rs2021185306:30,884,639A/C—likely benign
rs25386348956:30,884,656A/G—uncertain significance
rs7713886476:30,884,662G/A—uncertain significance
rs10049033546:30,884,668A/T—uncertain significance
rs14426687146:30,884,698T/C—uncertain significance
rs7640483086:30,884,713C/A—likely benign

Showing 100 of 428 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.