RORA

RAR related orphan receptor A

Summary

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]

Known Variants183 total

rsidPosition (GRCh37)AllelesClassClinVar
rs374326615:60,781,513T/C3 prime UTR variant—
rs53610467915:60,783,028C/T——
rs128638130815:60,789,655T/A—uncertain significance
rs254194869815:60,789,666T/G—uncertain significance
rs155542154415:60,789,728G/A—pathogenic
rs206519954715:60,789,779G/A—conflicting classifications of pathogenicity
rs1107153915:60,789,798G/T—benign
rs214125855215:60,792,101A/G—uncertain significance
rs11745865815:60,792,103T/A—likely benign
rs143385009415:60,792,113C/T—uncertain significance
rs119820310815:60,792,114G/A—pathogenic
rs254196542015:60,792,116T/C—uncertain significance
rs19986526015:60,792,133G/T—uncertain significance
rs206527831015:60,792,143G/A—likely benign
rs20051137415:60,792,153T/C—uncertain significance
rs254196611215:60,792,194C/T—likely pathogenic
rs254197456015:60,793,201T/G—uncertain significance
rs206531526615:60,793,242A/G—uncertain significance
rs145239478715:60,794,951C/A—uncertain significance
rs20223957615:60,794,977C/T—uncertain significance
rs77540259415:60,795,008G/A—likely benign
rs20115056615:60,795,033C/T—uncertain significance
rs54758418715:60,795,046T/C—uncertain significance
rs76142213315:60,795,055C/G—uncertain significance
rs214127637215:60,795,737C/T—uncertain significance
rs254199450415:60,795,740T/A—pathogenic
rs120739059015:60,795,787A/G—uncertain significance
rs105751898115:60,795,790——pathogenic
rs206539968915:60,795,793T/G—uncertain significance
rs104710948315:60,795,795G/T—likely benign
rs214127673615:60,795,815G/T—uncertain significance
rs14164054815:60,795,822T/C—likely benign
rs206540047315:60,795,826G/C—uncertain significance
rs214128617215:60,797,717T/C—uncertain significance
rs214128633015:60,797,749C/T—likely pathogenic
rs254201094515:60,797,798T/G—uncertain significance
rs76710567415:60,797,807G/C—uncertain significance
rs214128687815:60,797,829C/G—likely pathogenic
rs7274870315:60,798,751G/Aintron variant—
rs77165565215:60,803,443C/T—uncertain significance
rs254204840815:60,803,457T/C—uncertain significance
rs6174383415:60,803,462G/A—benign
rs20197342915:60,803,471C/T—likely benign
rs20022064515:60,803,472G/C—uncertain significance
rs14510273715:60,803,475C/G—uncertain significance
rs76777073415:60,803,495T/C—likely benign
rs20044924115:60,803,499G/C—uncertain significance
rs254204918215:60,803,545G/T—uncertain significance
rs14463605615:60,803,594G/A—likely benign
rs14819750715:60,803,597G/A—likely benign
rs254204993115:60,803,614C/T—uncertain significance
rs76093903015:60,803,629C/T—conflicting classifications of pathogenicity
rs6174283415:60,803,630G/A—benign
rs254205020615:60,803,632C/T—uncertain significance
rs214132000915:60,803,641T/C—uncertain significance
rs104463358915:60,803,653C/T—uncertain significance
rs75029647415:60,803,654G/C—uncertain significance
rs15080544415:60,803,672G/A—likely benign
rs123991719215:60,803,729G/C—uncertain significance
rs75829561315:60,803,736C/T—uncertain significance
rs206569885415:60,803,739T/A—uncertain significance
rs254205163515:60,803,740G/A—pathogenic
rs6174027415:60,803,741C/T—benign
rs254205169115:60,803,746G/A—pathogenic
rs20110236415:60,803,754C/T—uncertain significance
rs20022873915:60,803,779A/G—likely benign
rs254205203615:60,803,794T/G—uncertain significance
rs254205210815:60,803,802A/G—uncertain significance
rs254205213115:60,803,805C/T—conflicting classifications of pathogenicity
rs122286043415:60,803,806G/A—pathogenic
rs254207300115:60,806,814C/T—pathogenic
rs78060620515:60,806,820C/T—uncertain significance
rs254207311615:60,806,830C/T—uncertain significance
rs159588901015:60,806,853C/T—likely pathogenic
rs214133809315:60,806,955C/T—uncertain significance
rs18382426115:60,806,964A/G—likely benign
rs155542749715:60,823,966T/C—pathogenic
rs155542749815:60,823,972C/G—pathogenic
rs214145207815:60,824,017C/A—uncertain significance
rs254219389615:60,824,032G/A—uncertain significance
rs254219392915:60,824,044A/T—likely pathogenic
rs92711952415:60,824,061A/G—uncertain significance
rs7274872315:60,835,286G/Aregulatory region variant—
rs20060307815:60,849,100G/C—uncertain significance
rs14851437915:60,849,114T/C—likely benign
rs19993795115:60,850,429C/T—likely benign
rs77586448815:60,850,430G/A—likely benign
rs76531237515:60,850,451A/C—likely benign
rs15112652015:60,850,453C/A—likely benign
rs20039967015:60,850,497A/G—uncertain significance
rs128376446515:60,850,503T/C—uncertain significance
rs75922499415:60,850,508G/A—uncertain significance
rs37000350715:60,850,512C/T—likely benign
rs18093819015:60,855,536T/Gdownstream gene variant—
rs34000515:60,878,030G/Aregulatory region variant—
rs33996915:60,883,281C/G——
rs34002915:60,894,965C/Tintron variant—
rs98000015:60,900,963C/G——
rs1185522015:60,904,848C/T——
rs34002215:60,907,100C/T—likely benign

Showing 100 of 183 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.