CARS2

cysteinyl-tRNA synthetase 2, mitochondrial

Summary

This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

Known Variants647 total

rsidPosition (GRCh37)AllelesClassClinVar
rs799830613:111,293,640A/G—benign
rs381849913:111,293,830C/G—benign
rs33057013:111,293,847G/A—benign
rs132403173913:111,293,884T/G—uncertain significance
rs159419461413:111,293,886A/C—uncertain significance
rs141521516713:111,293,887G/C—likely benign
rs77435758413:111,293,890C/T—likely benign
rs54236622213:111,293,891G/A—uncertain significance
rs122983384113:111,293,894G/C—uncertain significance
rs18806802713:111,293,898T/C—likely benign
rs250173405713:111,293,901G/A—uncertain significance
rs75647758813:111,293,903T/C—uncertain significance
rs119197005313:111,293,912C/G—uncertain significance
rs156662993513:111,293,913T/C—uncertain significance
rs104388613:111,293,915T/G—benign
rs156662997513:111,293,917A/G—likely benign
rs147459591613:111,293,920C/T—likely benign
rs250173430113:111,293,921A/G—uncertain significance
rs103220487013:111,293,925G/T—uncertain significance
rs116283926513:111,293,929C/T—uncertain significance
rs37521325213:111,293,930C/T—uncertain significance
rs213966343313:111,293,931A/C—uncertain significance
rs20172893313:111,293,932C/T—likely benign
rs37162544813:111,293,933G/A—uncertain significance
rs145679173313:111,293,935G/C—likely benign
rs144993884013:111,293,942G/A—uncertain significance
rs128461899413:111,293,944A/G—likely benign
rs75457972513:111,293,945C/G—uncertain significance
rs14118437913:111,293,947G/T—conflicting classifications of pathogenicity
rs74787037513:111,293,948C/T—uncertain significance
rs188729793813:111,293,949T/C—uncertain significance
rs159419508113:111,293,950T/G—uncertain significance
rs188729844013:111,293,952T/C—uncertain significance
rs37007345513:111,293,962A/G—likely benign
rs213966364513:111,293,964G/A—likely benign
rs188730166413:111,293,965A/G—likely benign
rs11511672213:111,293,967G/C—likely benign
rs14224573713:111,293,988G/A—benign
rs14835827313:111,294,603C/T—likely benign
rs137106783513:111,294,644C/A—likely benign
rs55043134413:111,294,645C/T—likely benign
rs213966660713:111,294,650T/G—likely benign
rs36802036513:111,294,652C/T—likely benign
rs130215483213:111,294,653G/A—likely benign
rs188745417213:111,294,658T/C—uncertain significance
rs55410021813:111,294,659C/T—uncertain significance
rs105398260613:111,294,661C/G—uncertain significance
rs250174360713:111,294,670T/G—uncertain significance
rs77750393713:111,294,676C/T—uncertain significance
rs74899670313:111,294,677G/A—likely benign
rs56839165713:111,294,680G/A—likely benign
rs117022031613:111,294,686C/T—likely benign
rs213966676313:111,294,687A/G—uncertain significance
rs213966677713:111,294,689G/A—likely benign
rs37187688913:111,294,693C/T—uncertain significance
rs56614302613:111,294,694G/A—uncertain significance
rs77547964113:111,294,695G/A—likely benign
rs76081888713:111,294,696C/T—uncertain significance
rs136829465813:111,294,697G/A—uncertain significance
rs20147273513:111,294,704G/A—likely benign
rs15078007613:111,294,706C/T—uncertain significance
rs54757819213:111,294,707G/A—likely benign
rs250174409813:111,294,709A/G—uncertain significance
rs76575805413:111,294,710T/C—likely benign
rs75096330313:111,294,711G/A—uncertain significance
rs121437943013:111,294,715C/G—uncertain significance
rs213966689813:111,294,717A/G—uncertain significance
rs37712072413:111,294,719C/T—conflicting classifications of pathogenicity
rs76700846713:111,294,724G/A—uncertain significance
rs77725877413:111,294,733C/G—uncertain significance
rs75357437113:111,294,744T/C—uncertain significance
rs95321165613:111,294,745G/T—uncertain significance
rs13802257613:111,294,747C/T—uncertain significance
rs14377733013:111,294,748G/A—uncertain significance
rs20049139513:111,294,750C/T—conflicting classifications of pathogenicity
rs19952771813:111,294,751G/A—uncertain significance
rs14721644313:111,294,754C/T—likely benign
rs53916870513:111,294,755G/A—likely benign
rs119545857213:111,294,757C/T—uncertain significance
rs77670809913:111,294,758C/T—likely benign
rs37241047113:111,294,761C/T—likely benign
rs37671370613:111,294,762G/A—uncertain significance
rs36862480213:111,294,769C/T—uncertain significance
rs76343447913:111,294,770G/A—likely benign
rs142853263613:111,294,773C/T—uncertain significance
rs76258312613:111,294,775T/C—uncertain significance
rs76695323413:111,294,776G/A—likely benign
rs75214841613:111,294,777G/A—uncertain significance
rs76371702313:111,294,780A/G—uncertain significance
rs213966720813:111,294,781G/T—uncertain significance
rs75342582613:111,294,782C/T—likely benign
rs75683398113:111,294,783G/A—uncertain significance
rs250174522813:111,294,786A/C—uncertain significance
rs77854659213:111,294,792C/T—uncertain significance
rs75821757213:111,294,793G/T—conflicting classifications of pathogenicity
rs14056797313:111,294,795A/G—uncertain significance
rs14635542913:111,294,796C/T—benign
rs78126983013:111,294,800C/T—likely benign
rs250174553413:111,294,803C/G—likely benign
rs74819152413:111,294,804C/T—uncertain significance

Showing 100 of 647 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.