BRF1

BRF1 general transcription factor IIIB subunit

Summary

This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]

Known Variants151 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75122418514:105,675,408C/T——
rs75750780914:105,675,969C/T—likely benign
rs140913608714:105,675,970G/A—likely benign
rs15063633214:105,676,915A/G—likely benign
rs129607442814:105,676,917A/G—uncertain significance
rs139742802614:105,677,452C/T—likely benign
rs125055623914:105,677,475C/T—likely benign
rs20204941114:105,677,501C/T—likely pathogenic
rs75466166214:105,677,508C/A—uncertain significance
rs75221629114:105,677,511G/A—likely benign
rs100854025314:105,677,514A/G—likely benign
rs96704152214:105,677,521T/C—uncertain significance
rs96180213014:105,677,526G/A—likely benign
rs19983679414:105,677,538G/C—likely benign
rs76125823814:105,677,546G/A—uncertain significance
rs37315488614:105,677,556G/A—likely benign
rs14344151414:105,677,565C/T—likely benign
rs14624462614:105,677,578G/A—likely benign
rs13927541014:105,677,579C/T—likely benign
rs20044104514:105,677,603C/T—uncertain significance
rs77521639514:105,677,623A/T—uncertain significance
rs58768494014:105,677,629G/C—likely benign
rs14408883914:105,678,481G/A—uncertain significance
rs58762288014:105,683,545A/C—benign
rs37028857914:105,683,893C/A—uncertain significance
rs254314201014:105,683,924C/G—uncertain significance
rs20047162614:105,683,928C/A—likely benign
rs77041128314:105,683,939G/C—conflicting classifications of pathogenicity
rs18814231614:105,683,960C/A—uncertain significance
rs19968617114:105,683,970G/A—benign
rs75869279314:105,684,002C/T—uncertain significance
rs14527113914:105,684,003G/A—benign
rs75123141414:105,684,005C/T—uncertain significance
rs37694888714:105,684,031C/A—uncertain significance
rs254314565314:105,684,065C/G—uncertain significance
rs105751825914:105,684,072C/A—uncertain significance
rs14185946414:105,684,093G/A—likely benign
rs37166987214:105,684,115C/T—uncertain significance
rs75491154414:105,684,120C/T—likely benign
rs133198186614:105,684,137G/T—uncertain significance
rs74608310714:105,684,141G/C—likely benign
rs37104848714:105,685,481C/T—likely benign
rs13848660414:105,685,499C/T—uncertain significance
rs15024038814:105,685,513G/A—likely benign
rs77798266014:105,685,545G/A—uncertain significance
rs58761034714:105,686,451G/A—likely benign
rs254319452614:105,686,456C/G—uncertain significance
rs254319463514:105,686,462C/T—uncertain significance
rs77665679314:105,687,978A/T—likely benign
rs37331397914:105,687,991C/T—likely benign
rs14948207714:105,687,992G/A—likely benign
rs254321993814:105,687,997T/A—likely benign
rs189230816014:105,688,035C/T—uncertain significance
rs132498945814:105,688,058G/A—likely benign
rs76969429114:105,688,072A/T—likely benign
rs119352377814:105,688,081C/T—uncertain significance
rs76730469214:105,688,093C/T—conflicting classifications of pathogenicity
rs14626246414:105,688,096C/T—uncertain significance
rs75788434914:105,688,099A/T—likely benign
rs131423441014:105,688,108T/A—uncertain significance
rs75251096814:105,688,121C/T—likely benign
rs36879254714:105,688,122G/A—uncertain significance
rs13938634114:105,688,130G/A—likely benign
rs159528284514:105,688,157T/C—likely benign
rs76595121714:105,688,161T/C—likely benign
rs14264107414:105,688,183C/A—uncertain significance
rs77469064914:105,688,199G/A—likely benign
rs6174539614:105,688,226G/C—likely benign
rs159528325714:105,688,229G/C—likely benign
rs77628797114:105,688,233G/A—likely benign
rs20135810314:105,688,235G/A—likely benign
rs77546329814:105,688,243C/T—likely benign
rs76285660614:105,688,244G/A—likely benign
rs76734230514:105,692,429C/A—uncertain significance
rs141747802314:105,692,439C/T—uncertain significance
rs14571990114:105,692,467C/G—likely benign
rs214155807414:105,692,603G/T—uncertain significance
rs11773248914:105,692,616G/A—likely benign
rs18681318114:105,692,962C/T—benign
rs75803854214:105,692,966G/C—likely benign
rs75729038314:105,692,982G/A—uncertain significance
rs74568876314:105,692,986C/T—likely benign
rs76527718314:105,693,007C/T—likely benign
rs77376888014:105,693,008G/C—uncertain significance
rs36961847514:105,693,010G/C—likely benign
rs60623145014:105,693,011G/Cmissense variantpathogenic
rs37169198414:105,693,018C/T—uncertain significance
rs13823416114:105,693,019G/A—benign
rs127734009814:105,693,023T/C—uncertain significance
rs58766357214:105,693,037G/C—uncertain significance
rs15129035814:105,695,163C/T—uncertain significance
rs78142639714:105,695,164G/A—uncertain significance
rs159532567414:105,695,166A/G—uncertain significance
rs14077950714:105,695,168C/T—likely benign
rs37395730014:105,695,169G/Amissense variantpathogenic
rs76016660914:105,695,179A/G—uncertain significance
rs58770788014:105,695,217C/T—likely benign
rs14232807314:105,695,249C/T—conflicting classifications of pathogenicity
rs196763914:105,707,174A/G——
rs14081361714:105,707,609G/A—benign

Showing 100 of 151 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.