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

Gene information from NCBI Gene. Variant classifications from ClinVar.