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

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

Gene information from NCBI Gene. Variant classifications from ClinVar.