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/Auncertain 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/Tlikely benign
rs2000822999:137,293,581G/Alikely benign
rs18053529:137,299,949C/Aintron variant
rs7485180629:137,300,926C/Tuncertain significance
rs7780771889:137,300,948T/Cuncertain 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/Tuncertain significance
rs1462952239:137,309,041C/Auncertain significance
rs24907946189:137,309,054G/Cuncertain significance
rs15882996219:137,309,064G/Alikely pathogenic
rs7812817659:137,309,067G/Auncertain significance
rs9861852589:137,309,157G/Cuncertain 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/Tuncertain significance
rs64135149:137,328,175T/Cintron variant
rs10575199589:137,328,351C/Tmissense variant
rs13904616879:137,328,433G/Auncertain significance
rs14682448909:137,328,440G/Auncertain significance
rs13062451719:137,328,441C/Tuncertain significance
rs24908440519:137,328,446C/Tuncertain 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.