FARSB

phenylalanyl-tRNA synthetase subunit beta

Summary

This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Known Variants158 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16863886	2:223,432,097	T/A	coding sequence variant	—
rs116655892	2:223,436,586	A/G	—	benign
rs141988189	2:223,436,603	C/A	—	uncertain significance
rs7185	2:223,436,607	C/T	—	benign
rs1179115421	2:223,436,610	T/C	—	uncertain significance
rs1689725433	2:223,436,617	T/C	—	likely benign
rs1391411421	2:223,436,634	T/G	—	uncertain significance
rs2469344315	2:223,436,640	G/A	—	likely benign
rs747770664	2:223,436,658	C/T	—	uncertain significance
rs141929079	2:223,436,659	G/A	—	likely benign
rs2469344393	2:223,436,667	G/A	—	uncertain significance
rs770964019	2:223,436,686	G/A	—	likely benign
rs776755911	2:223,436,688	C/T	—	likely benign
rs768843030	2:223,436,692	T/C	—	likely benign
rs774298156	2:223,436,696	C/A	—	uncertain significance
rs761078821	2:223,436,709	T/C	—	uncertain significance
rs77827981	2:223,436,719	T/G	—	likely benign
rs2469344587	2:223,436,721	G/A	—	uncertain significance
rs377716916	2:223,436,725	G/A	—	likely benign
rs201693414	2:223,436,750	G/C	—	likely benign
rs369727146	2:223,464,630	C/T	—	likely benign
rs1262921604	2:223,464,685	C/G	—	uncertain significance
rs1054521434	2:223,464,689	G/C	—	uncertain significance
rs186471122	2:223,464,691	G/A	—	uncertain significance
rs745671879	2:223,464,736	A/C	—	uncertain significance
rs2469384220	2:223,464,761	A/G	—	uncertain significance
rs1372677479	2:223,464,778	T/C	—	uncertain significance
rs2469384329	2:223,464,782	T/G	—	likely benign
rs36015125	2:223,471,268	C/G	intron variant	—
rs2576005	2:223,472,368	A/C	—	—
rs876175	2:223,476,176	G/C	—	—
rs2469403472	2:223,478,514	G/A	—	likely benign
rs578043952	2:223,478,533	T/C	—	uncertain significance
rs746234151	2:223,478,534	A/T	—	uncertain significance
rs560314032	2:223,478,549	T/C	—	benign
rs764720008	2:223,478,554	T/C	—	uncertain significance
rs2469403607	2:223,478,561	G/T	—	likely benign
rs766030802	2:223,478,596	G/A	—	uncertain significance
rs529537205	2:223,478,608	T/C	—	uncertain significance
rs1396171148	2:223,478,611	T/G	—	pathogenic
rs368567707	2:223,478,618	G/A	—	likely benign
rs761393081	2:223,478,666	A/C	—	likely benign
rs780363840	2:223,484,381	T/C	—	uncertain significance
rs748609131	2:223,484,397	G/A	—	likely benign
rs142144183	2:223,484,430	T/C	—	likely benign
rs2469412419	2:223,484,451	G/C	—	likely benign
rs762745436	2:223,484,468	A/C	—	likely benign
rs2469412475	2:223,484,472	A/G	—	likely benign
rs140366261	2:223,488,402	G/A	—	likely benign
rs1553553086	2:223,488,418	C/T	—	pathogenic
rs143154293	2:223,488,419	G/T	—	benign
rs111567015	2:223,488,453	A/G	—	benign
rs16863940	2:223,488,979	A/G	—	benign
rs759739651	2:223,488,993	G/C	—	uncertain significance
rs1235284307	2:223,489,015	C/T	—	likely benign
rs781692359	2:223,489,036	G/A	—	likely benign
rs560541569	2:223,489,043	C/G	—	uncertain significance
rs1691214534	2:223,489,092	C/T	—	uncertain significance
rs199579249	2:223,489,133	T/A	—	uncertain significance
rs554768563	2:223,489,175	T/C	—	likely benign
rs138310437	2:223,489,183	A/G	—	likely benign
rs2469419727	2:223,489,210	A/G	—	likely benign
rs1029150224	2:223,489,413	G/A	—	likely benign
rs141222148	2:223,489,422	T/C	—	benign
rs1033444151	2:223,489,461	C/T	—	uncertain significance
rs2106219989	2:223,489,472	A/G	—	uncertain significance
rs773579570	2:223,489,481	C/T	—	likely pathogenic
rs36025173	2:223,489,486	A/G	—	benign
rs752333492	2:223,489,509	G/A	—	likely benign
rs1691225499	2:223,489,512	T/G	—	likely benign
rs748311358	2:223,493,545	T/A	—	likely benign
rs773534672	2:223,493,563	G/C	—	uncertain significance
rs760096037	2:223,493,596	G/C	—	uncertain significance
rs767956337	2:223,493,603	C/T	—	pathogenic
rs141614708	2:223,493,606	C/T	—	uncertain significance
rs200932084	2:223,493,623	A/G	—	likely benign
rs777071414	2:223,494,831	C/T	—	pathogenic
rs759915281	2:223,494,832	G/A	—	uncertain significance
rs2469427783	2:223,494,863	T/C	—	uncertain significance
rs2469427852	2:223,494,905	A/C	—	likely benign
rs368222651	2:223,496,303	T/C	—	likely benign
rs112408035	2:223,496,304	G/C	—	likely benign
rs1553554543	2:223,496,325	T/C	—	pathogenic
rs753710639	2:223,496,342	G/A	missense variant	pathogenic
rs1466642025	2:223,496,354	A/G	—	pathogenic
rs1574944441	2:223,496,376	T/C	—	uncertain significance
rs1410927984	2:223,496,379	T/C	—	uncertain significance
rs372188174	2:223,496,391	C/G	—	uncertain significance
rs781522279	2:223,496,396	G/A	—	uncertain significance
rs139596776	2:223,497,945	C/T	—	uncertain significance
rs751573310	2:223,497,946	G/A	—	likely benign
rs750603882	2:223,497,962	T/G	—	uncertain significance
rs146768351	2:223,497,977	A/G	—	uncertain significance
rs2469433299	2:223,497,996	T/C	—	uncertain significance
rs2469433362	2:223,498,004	T/C	—	uncertain significance
rs555957732	2:223,498,019	T/C	—	uncertain significance
rs766749679	2:223,499,093	T/C	—	likely benign
rs146807481	2:223,499,142	A/G	—	conflicting classifications of pathogenicity
rs1691521880	2:223,499,143	C/A	—	uncertain significance
rs2469435299	2:223,499,152	C/A	—	uncertain significance

Showing 100 of 158 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.