LARS1

leucyl-tRNA synthetase 1

Summary

This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]

Known Variants362 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs148479269	5:145,493,522	A/C	—	likely benign
rs201583773	5:145,493,696	G/A	—	likely benign
rs370985873	5:145,493,700	A/G	—	uncertain significance
rs117895496	5:145,493,737	T/C	—	likely benign
rs2532713859	5:145,493,775	G/A	—	uncertain significance
rs201386463	5:145,493,791	C/T	—	uncertain significance
rs765125271	5:145,493,815	G/A	—	uncertain significance
rs779368854	5:145,493,820	C/T	—	uncertain significance
rs746600010	5:145,493,821	G/A	—	uncertain significance
rs141790396	5:145,493,864	T/C	—	likely benign
rs749698974	5:145,493,877	A/G	—	likely benign
rs113015845	5:145,494,068	G/A	—	benign
rs116780433	5:145,494,084	G/C	—	benign
rs73315731	5:145,499,777	C/G	—	benign
rs112894446	5:145,499,852	G/C	—	likely benign
rs1751763424	5:145,499,945	C/T	—	uncertain significance
rs369437593	5:145,499,946	G/A	—	pathogenic
rs369661734	5:145,499,948	T/C	—	uncertain significance
rs200326284	5:145,499,964	G/A	—	uncertain significance
rs745902477	5:145,499,970	T/C	—	uncertain significance
rs1172025211	5:145,499,971	T/C	—	uncertain significance
rs373129039	5:145,499,973	T/C	—	conflicting classifications of pathogenicity
rs10988	5:145,499,996	C/T	—	benign
rs1284711214	5:145,500,019	G/C	—	uncertain significance
rs777624825	5:145,500,054	C/T	—	conflicting classifications of pathogenicity
rs372036882	5:145,500,055	G/A	—	likely benign
rs779172824	5:145,500,076	C/T	—	likely benign
rs144388953	5:145,500,084	A/C	—	benign
rs17104250	5:145,500,101	G/C	—	benign
rs11167931	5:145,500,157	A/G	—	benign
rs74510329	5:145,500,394	T/C	—	benign
rs115323323	5:145,501,776	T/C	—	likely benign
rs147044022	5:145,501,838	A/C	—	likely benign
rs760309261	5:145,502,057	C/G	—	uncertain significance
rs1240203462	5:145,502,115	T/C	—	likely benign
rs748343914	5:145,502,121	G/A	—	likely benign
rs373492669	5:145,502,131	T/C	—	uncertain significance
rs534430761	5:145,502,160	C/T	—	likely benign
rs201352065	5:145,502,161	G/A	—	likely benign
rs73315733	5:145,502,329	G/A	—	benign
rs73315734	5:145,502,346	G/C	—	benign
rs199688556	5:145,503,551	C/T	—	likely benign
rs367974584	5:145,503,552	G/A	—	uncertain significance
rs1017639400	5:145,503,562	G/C	—	uncertain significance
rs34823161	5:145,503,564	T/C	—	likely benign
rs772815315	5:145,503,575	C/G	—	uncertain significance
rs1057523129	5:145,503,577	C/G	missense variant	pathogenic
rs545449776	5:145,503,580	T/G	—	uncertain significance
rs1581008247	5:145,503,593	T/C	—	likely benign
rs986551702	5:145,503,624	C/T	—	uncertain significance
rs1454491414	5:145,503,629	C/A	—	likely benign
rs2532754647	5:145,503,632	C/T	—	uncertain significance
rs2532754659	5:145,503,634	T/A	—	uncertain significance
rs189490244	5:145,505,678	T/C	—	likely benign
rs3749994	5:145,505,759	A/G	—	benign
rs146598416	5:145,505,922	G/A	—	likely benign
rs34192761	5:145,506,022	G/A	—	likely benign
rs753102886	5:145,506,023	A/G	—	uncertain significance
rs753968130	5:145,506,052	C/T	—	uncertain significance
rs757545621	5:145,506,053	A/G	—	uncertain significance
rs377245038	5:145,506,074	A/G	—	conflicting classifications of pathogenicity
rs1752053918	5:145,506,083	T/C	—	uncertain significance
rs368728386	5:145,506,099	C/T	—	uncertain significance
rs11540216	5:145,506,100	G/A	—	benign
rs762913390	5:145,506,104	T/C	—	conflicting classifications of pathogenicity
rs373325275	5:145,506,124	A/C	—	likely benign
rs1395277	5:145,506,248	C/T	—	benign
rs17104264	5:145,507,901	T/C	—	benign
rs116460108	5:145,508,224	G/A	—	benign
rs148025694	5:145,508,229	C/A	—	likely benign
rs1752143574	5:145,508,230	A/C	—	uncertain significance
rs892162210	5:145,508,259	C/G	—	likely benign
rs752413794	5:145,508,272	T/C	—	uncertain significance
rs138579998	5:145,508,284	T/C	—	uncertain significance
rs141727672	5:145,508,298	A/G	—	benign
rs757195926	5:145,508,299	T/C	missense variant	pathogenic
rs2126410845	5:145,508,323	T/C	—	uncertain significance
rs746693564	5:145,508,339	C/T	—	uncertain significance
rs2895647	5:145,508,340	A/G	—	benign
rs139456270	5:145,508,347	T/C	—	conflicting classifications of pathogenicity
rs373663096	5:145,508,351	C/T	—	likely benign
rs199817784	5:145,508,352	G/A	—	benign
rs2895648	5:145,508,457	T/C	—	benign
rs2895649	5:145,508,471	T/C	—	benign
rs531785197	5:145,508,527	C/A	—	benign
rs201994812	5:145,508,534	A/T	—	likely benign
rs2126412414	5:145,508,561	T/C	—	uncertain significance
rs781688282	5:145,508,563	T/C	—	uncertain significance
rs554207542	5:145,508,610	C/T	—	benign
rs61732383	5:145,508,636	T/C	—	benign
rs61732382	5:145,508,637	A/C	—	benign
rs150148403	5:145,508,644	C/T	—	likely benign
rs778955388	5:145,508,662	G/T	—	uncertain significance
rs181728560	5:145,508,691	A/G	—	benign
rs199826165	5:145,508,694	G/C	—	likely benign
rs17104266	5:145,509,380	G/A	—	benign
rs143025329	5:145,509,554	C/T	—	likely benign
rs11953517	5:145,509,573	G/A	—	benign
rs1310104386	5:145,509,598	A/C	—	uncertain significance
rs112912805	5:145,509,631	C/T	—	likely benign

Showing 100 of 362 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.