NARS2

asparaginyl-tRNA synthetase 2, mitochondrial

Summary

This gene encodes a putative member of the class II 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 asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

Known Variants292 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73504911	11:78,147,517	G/A	—	benign
rs181897672	11:78,147,712	C/T	—	benign
rs1281475758	11:78,147,729	G/A	—	uncertain significance
rs532947806	11:78,147,733	G/T	—	likely benign
rs2135124578	11:78,147,765	A/G	—	uncertain significance
rs549806314	11:78,147,768	T/C	—	uncertain significance
rs1399346230	11:78,147,789	T/C	—	uncertain significance
rs1336550340	11:78,147,798	C/T	—	uncertain significance
rs1281406867	11:78,147,800	T/C	—	likely benign
rs953849956	11:78,147,811	T/C	—	conflicting classifications of pathogenicity
rs771416192	11:78,147,825	T/G	—	uncertain significance
rs775587143	11:78,147,835	A/G	—	uncertain significance
rs763167916	11:78,147,839	A/C	—	uncertain significance
rs146549914	11:78,147,843	C/T	—	uncertain significance
rs751383065	11:78,147,844	G/C	—	uncertain significance
rs1481123553	11:78,147,847	G/A	—	uncertain significance
rs961589346	11:78,147,857	A/G	—	likely benign
rs370150532	11:78,147,859	A/G	—	conflicting classifications of pathogenicity
rs2135124873	11:78,147,860	C/G	—	uncertain significance
rs374003676	11:78,147,875	T/C	—	likely benign
rs754654199	11:78,147,877	G/C	—	likely benign
rs186265584	11:78,147,896	T/C	—	likely benign
rs143231520	11:78,147,913	T/C	—	likely benign
rs116693882	11:78,148,070	T/C	—	benign
rs61456491	11:78,151,888	A/G	—	benign
rs199838394	11:78,152,121	G/C	—	likely benign
rs1384353694	11:78,152,123	G/A	—	likely benign
rs2496022552	11:78,152,124	G/C	—	likely benign
rs961290117	11:78,152,128	C/T	—	likely benign
rs754677262	11:78,152,129	A/G	—	likely benign
rs201591441	11:78,152,130	T/C	—	conflicting classifications of pathogenicity
rs2135134581	11:78,152,139	T/C	—	likely benign
rs114495556	11:78,154,550	G/A	—	likely benign
rs7952008	11:78,154,610	G/A	—	benign
rs185461968	11:78,154,701	C/T	—	conflicting classifications of pathogenicity
rs535877562	11:78,154,716	C/T	—	uncertain significance
rs140045230	11:78,154,717	G/A	—	uncertain significance
rs779128703	11:78,154,723	C/G	—	uncertain significance
rs770595074	11:78,154,732	G/C	—	uncertain significance
rs368911815	11:78,154,733	G/C	—	pathogenic
rs2496045561	11:78,154,757	T/G	—	likely benign
rs143460012	11:78,154,760	A/G	—	likely benign
rs762638164	11:78,154,773	A/C	—	uncertain significance
rs2496045977	11:78,154,780	G/A	—	uncertain significance
rs763770414	11:78,154,785	A/C	—	pathogenic
rs2496046175	11:78,154,795	C/T	—	uncertain significance
rs73504915	11:78,154,892	G/A	—	benign
rs79192266	11:78,154,966	T/C	—	benign
rs7124092	11:78,155,086	T/C	—	benign
rs11237495	11:78,155,090	A/G	—	benign
rs73504947	11:78,176,808	A/G	—	benign
rs1422236872	11:78,176,941	T/G	—	uncertain significance
rs1565216037	11:78,176,944	T/C	—	likely pathogenic
rs2135213081	11:78,176,945	T/C	—	conflicting classifications of pathogenicity
rs762479722	11:78,176,954	T/G	—	conflicting classifications of pathogenicity
rs146766275	11:78,176,955	G/A	—	likely benign
rs774064377	11:78,176,967	G/A	—	likely benign
rs755592114	11:78,176,986	A/G	—	uncertain significance
rs1244333559	11:78,176,988	A/T	—	likely benign
rs765813020	11:78,176,990	C/T	—	conflicting classifications of pathogenicity
rs117996746	11:78,176,991	G/A	—	benign
rs150355410	11:78,177,004	T/C	—	likely benign
rs144922238	11:78,177,006	G/T	—	likely benign
rs781010451	11:78,177,027	C/T	—	likely benign
rs2496244087	11:78,177,036	T/C	—	likely benign
rs149061222	11:78,177,044	G/A	—	conflicting classifications of pathogenicity
rs979562397	11:78,177,047	G/C	—	uncertain significance
rs915521643	11:78,177,055	C/A	—	uncertain significance
rs202102587	11:78,177,063	T/A	—	likely benign
rs2496244697	11:78,177,066	T/G	—	likely benign
rs201187887	11:78,177,071	A/G	—	likely benign
rs1170110985	11:78,177,078	A/G	—	likely benign
rs115456691	11:78,177,141	A/G	—	benign
rs115946190	11:78,177,154	C/T	—	likely benign
rs79870175	11:78,177,312	C/G	—	likely benign
rs11237512	11:78,177,324	C/A	—	benign
rs149626388	11:78,178,471	C/T	—	benign
rs916522551	11:78,178,503	G/C	—	likely benign
rs114225694	11:78,180,033	C/T	—	benign
rs145978015	11:78,180,098	T/C	—	likely benign
rs74868605	11:78,180,110	G/A	—	likely benign
rs11237514	11:78,180,179	A/G	—	benign
rs2496277378	11:78,180,277	A/G	—	likely benign
rs747580509	11:78,180,282	C/T	—	likely benign
rs760348257	11:78,180,301	T/A	—	uncertain significance
rs1281984482	11:78,180,305	G/A	—	likely benign
rs775980355	11:78,180,310	A/G	—	uncertain significance
rs34950075	11:78,180,311	G/C	—	conflicting classifications of pathogenicity
rs544972589	11:78,180,329	T/C	—	conflicting classifications of pathogenicity
rs766342345	11:78,180,337	C/T	—	uncertain significance
rs756323353	11:78,180,344	T/A	—	uncertain significance
rs565224393	11:78,180,350	A/T	—	pathogenic
rs10899517	11:78,180,507	A/T	—	benign
rs10899518	11:78,180,508	A/C	—	benign
rs2496352818	11:78,187,979	A/C	—	likely pathogenic
rs1555018045	11:78,189,495	G/T	—	uncertain significance
rs373625110	11:78,189,535	C/T	—	likely benign
rs4944202	11:78,189,558	T/C	—	benign
rs2135265429	11:78,189,614	T/G	—	likely benign
rs1322603997	11:78,189,618	T/C	—	likely benign

Showing 100 of 292 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.