RXRA

retinoid X receptor alpha

Summary

Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants45 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18349152649:137,218,506G/A—uncertain significance
rs8816589:137,229,855C/Tintron variant—
rs8816579:137,230,016A/T——
rs5447494989:137,239,573C/T——
rs111856599:137,243,383C/A——
rs78649879:137,248,166T/Cregulatory region variant—
rs111856609:137,259,992T/A——
rs111856629:137,262,119T/Cregulatory region variant—
rs108815839:137,267,439T/Cregulatory region variant—
rs289707739:137,267,783T/A——
rs341924499:137,272,502A/Gregulatory region variant—
rs120045899:137,290,725G/A——
rs18053379:137,293,572C/T—likely benign
rs2000822999:137,293,581G/A—likely benign
rs18053529:137,299,949C/Aintron variant—
rs7485180629:137,300,926C/T—uncertain significance
rs7780771889:137,300,948T/C—uncertain significance
rs31322979:137,301,866A/Gintron variant—
rs31322969:137,302,631C/Tintron variant—
rs31185299:137,304,915C/Tintron variant—
rs31185369:137,308,462A/Cintron variant—
rs13481090629:137,309,024C/T—uncertain significance
rs1462952239:137,309,041C/A—uncertain significance
rs24907946189:137,309,054G/C—uncertain significance
rs15882996219:137,309,064G/A—likely pathogenic
rs7812817659:137,309,067G/A—uncertain significance
rs9861852589:137,309,157G/C—uncertain significance
rs78617799:137,309,461C/Tintron variant—
rs42407059:137,311,400G/C——
rs353625539:137,314,943C/Tregulatory region variant—
rs31185709:137,320,855G/C——
rs15364759:137,321,156A/T——
rs31322939:137,325,822T/A——
rs7534744659:137,325,984C/T—uncertain significance
rs64135149:137,328,175T/Cintron variant—
rs10575199589:137,328,351C/Tmissense variant—
rs13904616879:137,328,433G/A—uncertain significance
rs14682448909:137,328,440G/A—uncertain significance
rs13062451719:137,328,441C/T—uncertain significance
rs24908440519:137,328,446C/T—uncertain significance
rs617514809:137,328,466C/T3 prime UTR variant—
rs42407119:137,329,306G/Adownstream gene variant—
rs48421949:137,330,560C/Tregulatory region variant—
rs10455709:137,332,311T/A——
rs31322919:137,332,918G/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.