RGR

retinal G protein coupled receptor

Summary

This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants242 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37731414510:86,004,830A/G—uncertain significance
rs184273059010:86,004,851C/T—uncertain significance
rs77344305710:86,004,858C/A—benign
rs1120093810:86,004,865C/T—benign
rs75095945010:86,004,867G/A—likely benign
rs184273110310:86,004,871A/T—uncertain significance
rs227922710:86,004,873T/C—benign
rs184273133810:86,004,878T/G—uncertain significance
rs20046441810:86,004,879C/T—likely benign
rs75187471210:86,004,880G/A—uncertain significance
rs14261064210:86,004,888C/T—likely benign
rs78086548810:86,004,890A/C—uncertain significance
rs77726759210:86,004,905G/T—uncertain significance
rs74919296210:86,004,906G/A—likely benign
rs249262105110:86,004,907A/G—uncertain significance
rs36971987410:86,004,909G/A—uncertain significance
rs137507548910:86,004,915A/G—likely benign
rs77431603410:86,004,916C/T—likely benign
rs37390538310:86,004,918G/A—likely benign
rs77196969510:86,004,932C/T—likely benign
rs77705069210:86,004,935G/A—likely benign
rs76209060310:86,004,936C/G—likely benign
rs213287680310:86,007,327G/A—likely benign
rs213287681310:86,007,330C/T—likely benign
rs77716680110:86,007,332C/T—likely benign
rs184276215310:86,007,345A/C—uncertain significance
rs249262528610:86,007,353C/A—uncertain significance
rs77901798410:86,007,354C/T—likely benign
rs55254743210:86,007,355G/A—uncertain significance
rs104224868010:86,007,363C/T—likely benign
rs77003375010:86,007,368A/G—uncertain significance
rs76312271210:86,007,373C/T—likely benign
rs19294232510:86,007,375G/A—uncertain significance
rs77484955210:86,007,377C/T—uncertain significance
rs104228395210:86,007,399C/G—likely benign
rs75308687310:86,007,402G/A—conflicting classifications of pathogenicity
rs139361605710:86,007,406C/T—likely benign
rs13959517710:86,007,409C/T—uncertain significance
rs37408034010:86,007,410G/A—uncertain significance
rs213287697810:86,007,414T/A—likely benign
rs75680588610:86,007,427C/T—likely benign
rs249262570610:86,007,435G/T—likely benign
rs77850073910:86,007,441G/A—likely benign
rs19967982410:86,007,449C/T—uncertain significance
rs18440853310:86,007,450G/A—likely benign
rs14422372810:86,007,457G/A—uncertain significance
rs55150623810:86,007,459G/A—likely benign
rs10489418710:86,007,463A/Cmissense variantpathogenic
rs37282944410:86,007,468G/A—likely benign
rs249262586910:86,007,474C/T—likely benign
rs86850515710:86,007,477C/T—likely benign
rs77440488410:86,007,478G/A—uncertain significance
rs249262590010:86,007,479T/G—uncertain significance
rs141040505910:86,007,485C/G—uncertain significance
rs14653653910:86,007,496C/T—uncertain significance
rs76112626610:86,007,497T/G—uncertain significance
rs20133501510:86,007,502C/T—uncertain significance
rs76155438110:86,007,503G/A—conflicting classifications of pathogenicity
rs249262611210:86,007,522G/C—likely benign
rs139631477410:86,008,658G/C—likely benign
rs98383220410:86,008,679C/T—uncertain significance
rs78029597610:86,008,680G/A—uncertain significance
rs75151519710:86,008,684G/T—uncertain significance
rs14983959610:86,008,690C/T—benign
rs11675448910:86,008,691G/A—likely benign
rs128420600510:86,008,694T/C—uncertain significance
rs74743566110:86,008,695C/T—uncertain significance
rs75847965110:86,008,696G/A—likely benign
rs74760984210:86,008,698A/G—uncertain significance
rs56136238910:86,008,699C/T—likely benign
rs36945725810:86,008,700G/A—uncertain significance
rs213287875810:86,008,705C/T—likely benign
rs249262908710:86,008,710C/T—uncertain significance
rs184278156210:86,008,713A/G—uncertain significance
rs14899180710:86,008,714C/T—likely benign
rs55020402910:86,008,715G/T—uncertain significance
rs115721185010:86,008,718T/C—uncertain significance
rs77343579610:86,008,737C/T—uncertain significance
rs37303058510:86,008,738G/A—likely benign
rs76738979210:86,008,739T/C—likely benign
rs123709652810:86,008,746G/C—uncertain significance
rs14376196710:86,008,759T/C—conflicting classifications of pathogenicity
rs249262927510:86,008,766A/G—uncertain significance
rs75853629610:86,008,768C/T—likely benign
rs78023144810:86,008,769G/A—uncertain significance
rs13804463710:86,008,771A/C—likely benign
rs184278289710:86,008,773G/T—uncertain significance
rs14205046710:86,008,778C/T—uncertain significance
rs57163910910:86,008,779G/A—uncertain significance
rs249262936110:86,008,784C/A—uncertain significance
rs77401919510:86,008,792C/T—likely benign
rs77541239010:86,008,799C/T—uncertain significance
rs54805151510:86,008,800G/A—uncertain significance
rs135632224910:86,008,803T/C—uncertain significance
rs37352108510:86,008,816C/G—likely benign
rs249263857110:86,012,594C/T—likely benign
rs37363005810:86,012,598C/A—uncertain significance
rs249263857610:86,012,599T/A—likely benign
rs95013402110:86,012,619A/T—uncertain significance
rs14578608810:86,012,633T/A—uncertain significance

Showing 100 of 242 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.