FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial

Summary

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants413 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2224391	6:5,260,936	A/C	missense variant	benign
rs9784830	6:5,261,540	C/T	—	benign
rs9504369	6:5,261,575	T/C	—	benign
rs9504370	6:5,261,601	T/C	—	benign
rs17139985	6:5,261,603	T/C	—	benign
rs9504371	6:5,261,608	T/C	—	benign
rs13191522	6:5,261,653	G/C	—	likely benign
rs2773320	6:5,261,681	A/G	—	benign
rs2753246	6:5,261,845	A/G	—	benign
rs2753247	6:5,261,987	A/T	—	benign
rs139890540	6:5,368,511	C/T	—	likely benign
rs2127642660	6:5,368,806	G/T	—	pathogenic
rs759961408	6:5,368,807	G/T	—	uncertain significance
rs772379847	6:5,368,809	G/A	—	likely benign
rs111573636	6:5,368,810	G/A	—	uncertain significance
rs200380429	6:5,368,811	G/T	—	likely benign
rs1758826622	6:5,368,814	C/G	—	pathogenic
rs1758826838	6:5,368,820	T/C	—	uncertain significance
rs2127642730	6:5,368,823	G/A	—	uncertain significance
rs764390927	6:5,368,824	G/T	—	conflicting classifications of pathogenicity
rs753993545	6:5,368,831	G/T	—	uncertain significance
rs1348616908	6:5,368,871	T/A	—	uncertain significance
rs573996374	6:5,368,873	T/A	—	uncertain significance
rs894420718	6:5,368,875	C/T	—	likely benign
rs537850422	6:5,368,883	A/G	—	uncertain significance
rs2127642856	6:5,368,887	G/A	—	likely benign
rs754644366	6:5,368,889	A/G	—	uncertain significance
rs556195502	6:5,368,894	G/A	—	uncertain significance
rs1259085373	6:5,368,897	T/A	—	uncertain significance
rs148568494	6:5,368,904	C/T	—	conflicting classifications of pathogenicity
rs113155624	6:5,368,905	G/A	—	benign
rs772604608	6:5,368,911	T/C	—	likely benign
rs1758834263	6:5,368,916	C/A	—	uncertain significance
rs761074033	6:5,368,923	G/T	—	uncertain significance
rs1758835400	6:5,368,928	C/T	—	uncertain significance
rs2534748563	6:5,368,929	C/T	—	likely benign
rs769031929	6:5,368,931	C/G	—	uncertain significance
rs1453046888	6:5,368,934	A/G	—	uncertain significance
rs2127643010	6:5,368,941	T/C	—	likely benign
rs201710092	6:5,368,942	C/T	—	uncertain significance
rs2534748784	6:5,368,944	A/G	—	likely benign
rs1758836861	6:5,368,949	G/A	—	uncertain significance
rs1448847094	6:5,368,953	G/A	—	likely benign
rs2534748926	6:5,368,954	G/C	—	uncertain significance
rs1380230371	6:5,368,963	C/T	—	likely benign
rs34382405	6:5,368,973	C/G	—	likely benign
rs2127643060	6:5,368,975	T/C	—	uncertain significance
rs1187765069	6:5,368,981	C/T	—	pathogenic
rs73718082	6:5,368,986	C/G	—	uncertain significance
rs780467389	6:5,368,987	G/T	—	uncertain significance
rs2534749251	6:5,368,990	C/A	—	uncertain significance
rs1554169280	6:5,368,995	C/G	—	likely pathogenic
rs1357700939	6:5,369,004	C/G	—	likely benign
rs374531453	6:5,369,005	C/T	—	uncertain significance
rs368352168	6:5,369,006	G/A	—	uncertain significance
rs2534749588	6:5,369,007	G/C	—	likely benign
rs1238818327	6:5,369,009	A/G	—	uncertain significance
rs1472943265	6:5,369,010	G/A	—	likely benign
rs748813583	6:5,369,016	C/T	—	likely benign
rs367691523	6:5,369,027	G/T	—	uncertain significance
rs769085279	6:5,369,031	G/A	—	likely benign
rs1758842999	6:5,369,033	A/T	—	uncertain significance
rs777130213	6:5,369,034	C/T	—	likely benign
rs1758843360	6:5,369,037	G/T	—	likely benign
rs1758844499	6:5,369,054	A/C	—	pathogenic
rs770035560	6:5,369,056	C/G	—	conflicting classifications of pathogenicity
rs773187294	6:5,369,062	T/G	—	uncertain significance
rs1229314240	6:5,369,064	G/A	—	pathogenic
rs1303293342	6:5,369,065	C/T	—	likely benign
rs377298153	6:5,369,067	G/A	—	likely benign
rs143959504	6:5,369,070	C/G	—	conflicting classifications of pathogenicity
rs1393644699	6:5,369,087	A/G	—	uncertain significance
rs201410497	6:5,369,091	C/T	—	likely benign
rs1758848715	6:5,369,097	C/T	—	likely benign
rs2534751220	6:5,369,099	A/G	—	uncertain significance
rs2127643451	6:5,369,100	G/T	—	uncertain significance
rs1428625375	6:5,369,101	C/T	—	pathogenic
rs146423499	6:5,369,103	G/A	—	likely benign
rs752460037	6:5,369,111	G/T	—	uncertain significance
rs982485775	6:5,369,113	C/T	—	uncertain significance
rs1482988377	6:5,369,114	G/A	—	uncertain significance
rs755776049	6:5,369,115	C/A	—	likely benign
rs1174267794	6:5,369,120	G/T	—	uncertain significance
rs140589763	6:5,369,121	G/A	—	likely benign
rs374957295	6:5,369,126	C/T	missense variant	uncertain significance
rs139618748	6:5,369,127	G/A	—	likely benign
rs961872269	6:5,369,130	G/A	—	likely benign
rs369145259	6:5,369,135	C/T	—	uncertain significance
rs781723007	6:5,369,136	G/A	—	likely benign
rs2127643553	6:5,369,139	C/T	—	likely benign
rs41302853	6:5,369,142	C/T	—	benign
rs2127643581	6:5,369,145	C/T	—	likely benign
rs200731335	6:5,369,147	A/G	—	conflicting classifications of pathogenicity
rs1554169338	6:5,369,157	A/G	—	likely benign
rs1057519095	6:5,369,164	A/G	—	uncertain significance
rs551537911	6:5,369,165	C/T	—	uncertain significance
rs1758855175	6:5,369,167	A/G	—	uncertain significance
rs566589950	6:5,369,175	G/A	—	likely benign
rs1173641601	6:5,369,178	C/T	—	likely benign
rs2127643700	6:5,369,181	T/C	—	likely benign

Showing 100 of 413 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.