FARSA

phenylalanyl-tRNA synthetase subunit alpha

Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75177823419:13,033,576G/C—uncertain significance
rs13904038319:13,033,677A/G—benign
rs104591319:13,035,006A/G—benign
rs75394662019:13,035,028A/G—uncertain significance
rs197130124819:13,035,306G/T—pathogenic
rs74833405619:13,035,325C/T—uncertain significance
rs14861338719:13,035,514C/T—likely benign
rs11387050319:13,035,517C/T—likely benign
rs14019318319:13,035,522C/A—benign
rs75651379419:13,035,523G/A—likely benign
rs13980548319:13,035,608G/A—likely pathogenic
rs75416022419:13,035,614A/G—uncertain significance
rs810717319:13,035,638A/G—benign
rs3508727719:13,035,722C/T—benign
rs77057611719:13,035,726C/G—uncertain significance
rs20127662019:13,035,732G/A—uncertain significance
rs14522244719:13,035,914C/T—uncertain significance
rs7709237619:13,035,981C/T—benign
rs54292880819:13,035,982G/A—uncertain significance
rs1041962719:13,036,677G/Aupstream gene variant—
rs7392523619:13,037,710G/Aupstream gene variant—
rs6210986519:13,037,734G/Aupstream gene variant—
rs311131619:13,038,415G/Aupstream gene variant—
rs75925997019:13,039,184A/G—likely benign
rs37527236419:13,039,185C/T—pathogenic
rs14325814419:13,039,217G/A—likely benign
rs94158600419:13,039,231A/G—pathogenic
rs76886684419:13,039,257G/A—uncertain significance
rs78133303019:13,039,264C/T—uncertain significance
rs13880400919:13,039,421A/C—uncertain significance
rs14227238019:13,039,461G/A—likely benign
rs14586910119:13,039,642C/G—uncertain significance
rs3479540819:13,041,054C/T—likely benign
rs103934514619:13,041,110G/A—uncertain significance
rs19982439619:13,041,124C/T—uncertain significance
rs37104788219:13,041,127C/T—uncertain significance
rs55627660719:13,041,128G/A—uncertain significance
rs6173750719:13,041,131G/T—conflicting classifications of pathogenicity
rs197137695819:13,041,145A/G—uncertain significance
rs77555362719:13,041,286C/T—uncertain significance
rs75875373119:13,041,467G/A—uncertain significance
rs74906825619:13,041,497G/A—uncertain significance
rs15119285319:13,041,541G/A—uncertain significance
rs75184385519:13,041,551C/T—uncertain significance
rs36966642819:13,044,399C/T—uncertain significance
rs132263519019:13,044,419C/T—uncertain significance
rs77620781719:13,044,428G/A—uncertain significance
rs55798317719:13,044,429C/A—uncertain significance
rs74742758319:13,044,444T/C—uncertain significance
rs197141995919:13,044,446T/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.