QARS1

glutaminyl-tRNA synthetase 1

Summary

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Known Variants776 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13435276473:49,133,465C/T—likely benign
rs3733001443:49,133,470T/C—uncertain significance
rs7625708763:49,133,473C/T—uncertain significance
rs3768706233:49,133,477G/A—likely benign
rs13888104523:49,133,478T/G—uncertain significance
rs7546485013:49,133,479C/T—uncertain significance
rs7670998363:49,133,486C/T—likely benign
rs12919657383:49,133,499C/T—uncertain significance
rs7463274923:49,133,500G/A—uncertain significance
rs5346242633:49,133,516G/A—likely benign
rs7769933713:49,133,525G/C—likely benign
rs1439862303:49,133,552C/T—likely benign
rs12156320563:49,135,407G/T—likely benign
rs7523229883:49,135,416G/A—likely benign
rs20424129623:49,135,422C/T—uncertain significance
rs11931942643:49,135,424C/G—uncertain significance
rs13246879603:49,135,425C/A—uncertain significance
rs14260977293:49,135,432T/C—uncertain significance
rs20424131093:49,135,437G/C—uncertain significance
rs1424805743:49,135,441T/C—uncertain significance
rs7517516623:49,135,449C/A—likely benign
rs7816178723:49,135,451C/T—uncertain significance
rs7483515823:49,135,452G/T—likely benign
rs12937784653:49,135,453G/A—uncertain significance
rs1403580333:49,135,464A/C—likely benign
rs7700194803:49,135,468C/T—uncertain significance
rs12346730163:49,135,469G/A—uncertain significance
rs3706852073:49,135,476C/A—uncertain significance
rs12820409843:49,135,479G/C—uncertain significance
rs7774524613:49,135,482C/G—uncertain significance
rs9252540003:49,135,484T/G—uncertain significance
rs7490550073:49,135,487C/A—uncertain significance
rs7726996183:49,135,492G/A—uncertain significance
rs5278648423:49,135,493G/T—uncertain significance
rs7637417453:49,135,507A/G—uncertain significance
rs14490002573:49,135,509A/T—uncertain significance
rs13770610023:49,135,518C/G—likely benign
rs9139195603:49,135,528G/A—uncertain significance
rs20424148253:49,135,529C/G—uncertain significance
rs2006637943:49,135,530A/G—likely benign
rs20424149143:49,135,532C/G—uncertain significance
rs24718427003:49,135,535C/G—uncertain significance
rs7520943173:49,135,536C/A—likely benign
rs7814546773:49,135,538C/T—uncertain significance
rs7527772803:49,135,539G/A—likely benign
rs7563047923:49,135,548T/C—likely benign
rs13324109933:49,135,549G/A—uncertain significance
rs20424151743:49,135,550C/G—uncertain significance
rs12934038303:49,135,557G/A—likely benign
rs10575242213:49,135,559A/G—likely benign
rs7491042663:49,135,560G/A—likely benign
rs3736962033:49,135,561G/C—likely benign
rs21070951163:49,135,562G/C—likely benign
rs21070951373:49,135,570G/T—likely benign
rs14653104903:49,135,612C/G—likely benign
rs3676925303:49,135,613T/C—likely benign
rs7748186943:49,135,614C/A—likely benign
rs24718430243:49,135,617G/A—likely benign
rs7601439073:49,135,627G/C—uncertain significance
rs24718430453:49,135,633G/A—likely benign
rs7528301453:49,135,634G/T—uncertain significance
rs3766866753:49,135,640T/C—likely benign
rs13792113763:49,135,646T/G—likely benign
rs1423276023:49,135,653G/A—conflicting classifications of pathogenicity
rs7786997483:49,135,654G/C—uncertain significance
rs24718431533:49,135,660C/T—uncertain significance
rs24718431583:49,135,662G/T—uncertain significance
rs5275044813:49,135,666G/C—uncertain significance
rs21070955263:49,135,672C/T—uncertain significance
rs13122288773:49,135,673A/G—likely benign
rs24718432153:49,135,676G/A—likely benign
rs21070955603:49,135,679C/T—likely benign
rs20424177273:49,135,683T/G—uncertain significance
rs3696690693:49,135,684G/A—uncertain significance
rs12270401833:49,135,685C/T—likely benign
rs20424178253:49,135,689A/C—uncertain significance
rs20424178623:49,135,693T/C—likely pathogenic
rs10247651713:49,135,694G/T—likely pathogenic
rs13521185863:49,135,695C/T—likely benign
rs24718433083:49,135,697G/A—likely benign
rs5491539643:49,135,703G/C—uncertain significance
rs8873494423:49,135,704T/A—likely benign
rs12802678843:49,135,705G/C—likely benign
rs24718433443:49,135,708G/A—likely benign
rs10057742543:49,135,709G/A—likely benign
rs1141492863:49,135,764C/A—likely benign
rs24718435893:49,135,767C/T—uncertain significance
rs12690313663:49,135,772C/T—likely benign
rs14517487863:49,135,774C/T—likely benign
rs793633353:49,135,785C/A—likely pathogenic
rs3764821523:49,135,787G/C—uncertain significance
rs7729949733:49,135,789C/T—uncertain significance
rs7462932413:49,135,790G/A—pathogenic
rs5579722273:49,135,795T/C—uncertain significance
rs1385886493:49,135,797G/A—likely benign
rs7787976513:49,135,799G/C—uncertain significance
rs2017819203:49,135,801C/T—uncertain significance
rs3709340933:49,135,802G/Amissense variantuncertain significance
rs1443163353:49,135,806C/T—likely benign
rs7617929993:49,135,809A/G—likely benign

Showing 100 of 776 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.