AHRR

aryl hydrocarbon receptor repressor

Summary

The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]

Known Variants77 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1901995165:329,316T/Cintron variant—
rs1439788165:350,477C/Gregulatory region variant—
rs5466504995:353,855G/A—uncertain significance
rs2014372475:353,870T/C—uncertain significance
rs3723391495:353,886G/A—uncertain significance
rs7734326605:353,898G/A—uncertain significance
rs7692423345:353,907C/G—uncertain significance
rs1503127215:353,938G/A—likely benign
rs7667742375:353,978G/A—uncertain significance
rs754367505:355,354T/Adownstream gene variant—
rs1870074115:376,085G/Aregulatory region variant—
rs2014034785:376,727G/A—uncertain significance
rs7543665845:376,755C/T—uncertain significance
rs5343615985:376,763G/A—uncertain significance
rs2010105055:376,790C/G—uncertain significance
rs24770990325:376,791T/C—uncertain significance
rs2020033425:376,805G/A—uncertain significance
rs1860309735:381,206G/Aregulatory region variant—
rs7634034915:413,499C/T—likely benign
rs5331377785:413,520C/T—uncertain significance
rs1880757365:413,521G/A—likely benign
rs623315915:422,574G/Adownstream gene variant—
rs13929448255:422,904T/C—uncertain significance
rs617559695:422,906C/T—benign
rs7588666365:422,948T/G—uncertain significance
rs22925965:422,955C/Tmissense variant—
rs3743248005:424,010C/T—uncertain significance
rs9078984175:424,082C/T—uncertain significance
rs7715635355:424,090C/T—likely benign
rs7747285655:427,756G/A—uncertain significance
rs14506835755:427,779C/T—uncertain significance
rs7500944725:427,791C/G—uncertain significance
rs7570862685:427,991C/T—uncertain significance
rs7782682005:428,000C/T—uncertain significance
rs1995094035:428,045G/A—likely benign
rs121881645:428,236C/Aintron variant—
rs10156940065:432,628A/G—likely benign
rs11613268445:432,931C/T—likely benign
rs1839630875:432,944G/T—uncertain significance
rs2011847895:432,970C/T—likely benign
rs13481091835:432,986C/A—uncertain significance
rs2003739645:433,013T/G—uncertain significance
rs2014023715:433,019C/T—uncertain significance
rs12557596745:433,967G/A—uncertain significance
rs7816724275:433,972A/G—uncertain significance
rs3689482245:434,023C/T—uncertain significance
rs7482272405:434,087G/A—uncertain significance
rs7707932645:434,123C/T—likely benign
rs3735492525:434,135G/A—uncertain significance
rs3756489635:434,140A/C—uncertain significance
rs1117682235:434,146C/T—benign
rs3706047685:434,169G/A—likely benign
rs5709837725:434,220G/C—likely benign
rs13757953435:434,230G/A—uncertain significance
rs7697813515:434,261G/A—uncertain significance
rs1478805635:434,284C/T—likely benign
rs3748899045:434,350C/T—uncertain significance
rs24773689985:434,399T/G—uncertain significance
rs13369084775:434,416G/T—uncertain significance
rs3737537925:434,461G/A—uncertain significance
rs7637198955:434,468A/C—uncertain significance
rs9100248715:434,525C/T—uncertain significance
rs14732587675:434,582C/A—uncertain significance
rs7614044835:434,591G/A—uncertain significance
rs7726314195:434,623G/A—uncertain significance
rs3704819425:434,629C/T—uncertain significance
rs12784513195:434,699A/G—uncertain significance
rs12709870125:434,732C/T—uncertain significance
rs7485358115:434,738C/T—uncertain significance
rs7484674495:434,850G/C—uncertain significance
rs12224614175:434,854A/G—likely benign
rs24773735585:434,902G/T—uncertain significance
rs1453114275:434,915C/T—uncertain significance
rs5293681245:434,927C/T—uncertain significance
rs11838343065:434,929G/C—uncertain significance
rs24773738605:434,942T/G—uncertain significance
rs100785:438,102G/C——

Gene information from NCBI Gene. Variant classifications from ClinVar.