GARS1

glycyl-tRNA synthetase 1

Summary

This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Known Variants658 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs76038928	7:30,633,142	T/C	upstream gene variant	—
rs2270025	7:30,634,004	T/C	—	benign
rs145875816	7:30,634,092	T/C	—	likely benign
rs115725201	7:30,634,120	T/A	—	benign
rs116125961	7:30,634,221	G/A	—	benign
rs73294431	7:30,634,258	G/A	—	benign
rs540431164	7:30,634,301	A/C	—	uncertain significance
rs148593022	7:30,634,313	G/A	—	likely benign
rs2970504	7:30,634,321	A/G	—	benign
rs17159262	7:30,634,333	C/T	—	likely benign
rs886062269	7:30,634,341	G/C	—	uncertain significance
rs940014942	7:30,634,343	A/T	—	uncertain significance
rs919928419	7:30,634,358	G/C	—	uncertain significance
rs78980639	7:30,634,361	T/C	—	likely benign
rs1008764831	7:30,634,372	T/G	—	uncertain significance
rs777045330	7:30,634,453	C/A	—	conflicting classifications of pathogenicity
rs886062270	7:30,634,458	C/T	—	uncertain significance
rs527307703	7:30,634,469	T/G	—	uncertain significance
rs932663016	7:30,634,474	C/T	—	uncertain significance
rs886062271	7:30,634,479	C/T	—	uncertain significance
rs903029869	7:30,634,493	C/T	—	uncertain significance
rs775425723	7:30,634,498	C/A	—	likely benign
rs1054637945	7:30,634,500	G/A	—	uncertain significance
rs531483802	7:30,634,502	C/T	—	uncertain significance
rs549993976	7:30,634,507	C/A	—	uncertain significance
rs1404831052	7:30,634,524	A/G	—	likely benign
rs747409671	7:30,634,532	A/G	—	conflicting classifications of pathogenicity
rs1257498883	7:30,634,537	C/A	—	uncertain significance
rs1345458433	7:30,634,538	A/T	—	uncertain significance
rs781520666	7:30,634,540	G/A	—	uncertain significance
rs1791207802	7:30,634,542	C/T	—	uncertain significance
rs746437033	7:30,634,543	C/T	—	likely benign
rs1184401493	7:30,634,545	C/A	—	uncertain significance
rs62636572	7:30,634,548	C/T	—	uncertain significance
rs775650014	7:30,634,549	G/A	—	likely benign
rs1167760411	7:30,634,554	C/T	—	uncertain significance
rs1584016961	7:30,634,555	A/G	—	likely benign
rs201132307	7:30,634,556	G/T	—	conflicting classifications of pathogenicity
rs1411328478	7:30,634,557	T/G	—	uncertain significance
rs955394532	7:30,634,565	A/G	—	uncertain significance
rs760668265	7:30,634,568	G/A	—	uncertain significance
rs1584017035	7:30,634,571	G/A	—	uncertain significance
rs1467460367	7:30,634,574	C/T	—	uncertain significance
rs766172101	7:30,634,575	G/C	—	uncertain significance
rs764698848	7:30,634,580	G/A	—	likely benign
rs758037738	7:30,634,581	C/T	—	likely benign
rs985496696	7:30,634,582	T/G	—	likely benign
rs2128131920	7:30,634,583	C/G	—	uncertain significance
rs1490209549	7:30,634,585	G/A	—	likely benign
rs202117737	7:30,634,588	G/A	—	likely benign
rs368574634	7:30,634,589	C/A	—	uncertain significance
rs756664556	7:30,634,596	T/C	—	conflicting classifications of pathogenicity
rs762624758	7:30,634,606	G/A	—	conflicting classifications of pathogenicity
rs768665866	7:30,634,609	C/T	—	likely benign
rs748449256	7:30,634,617	G/A	—	uncertain significance
rs772356008	7:30,634,624	G/T	—	likely benign
rs1057519166	7:30,634,627	C/T	—	conflicting classifications of pathogenicity
rs2529438	7:30,634,630	G/C	—	likely benign
rs863223328	7:30,634,632	T/C	—	benign
rs928410877	7:30,634,637	C/T	—	uncertain significance
rs1189675611	7:30,634,638	G/A	—	uncertain significance
rs770934994	7:30,634,641	C/G	—	uncertain significance
rs1166263515	7:30,634,645	C/T	—	likely benign
rs2128131936	7:30,634,647	G/A	—	uncertain significance
rs759499740	7:30,634,649	G/A	—	uncertain significance
rs764791266	7:30,634,651	G/T	—	likely benign
rs751125111	7:30,634,654	C/T	—	likely benign
rs988893052	7:30,634,660	C/A	—	conflicting classifications of pathogenicity
rs1049402	7:30,634,661	C/G	missense variant	benign
rs1316245045	7:30,634,662	C/T	—	uncertain significance
rs570608946	7:30,634,665	C/G	—	uncertain significance
rs1326074084	7:30,634,666	G/T	—	likely benign
rs1584017371	7:30,634,667	A/C	—	uncertain significance
rs1791215308	7:30,634,668	T/G	—	uncertain significance
rs2534280777	7:30,634,675	G/A	—	likely benign
rs947306374	7:30,634,678	C/A	—	likely benign
rs754360926	7:30,634,681	C/T	—	likely benign
rs2534280810	7:30,634,682	G/C	—	uncertain significance
rs1418015301	7:30,634,691	C/G	—	uncertain significance
rs755504496	7:30,634,692	G/A	—	uncertain significance
rs758434035	7:30,634,699	C/T	—	likely benign
rs900324585	7:30,634,700	A/G	—	uncertain significance
rs2534280878	7:30,634,701	T/C	—	uncertain significance
rs1403668479	7:30,634,703	G/A	—	uncertain significance
rs747227947	7:30,634,711	G/A	—	likely benign
rs1211728117	7:30,634,718	G/C	—	uncertain significance
rs1554336540	7:30,634,723	G/C	—	uncertain significance
rs770685104	7:30,634,726	G/C	—	likely benign
rs1179352387	7:30,634,731	C/T	—	uncertain significance
rs776478280	7:30,634,733	C/T	—	uncertain significance
rs1791217852	7:30,634,734	C/G	—	uncertain significance
rs891212642	7:30,634,744	A/G	—	likely benign
rs1008199275	7:30,634,745	G/C	—	uncertain significance
rs2534281070	7:30,634,749	T/C	—	uncertain significance
rs769658988	7:30,634,753	C/T	—	likely benign
rs1791218785	7:30,634,755	A/T	—	uncertain significance
rs2072236	7:30,634,764	T/C	—	benign
rs2534281145	7:30,634,765	G/A	—	uncertain significance
rs1279836209	7:30,634,776	C/A	—	likely benign
rs113551895	7:30,638,108	G/A	—	benign

Showing 100 of 658 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.