DRD2

dopamine receptor D2

Pharmacogene

Summary

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

Known Variants147 total

rsidPosition (GRCh37)AllelesClassClinVar
rs273484211:113,280,274G/Cdownstream gene variant—
rs627911:113,281,073G/C3 prime UTR variant—
rs627611:113,281,397C/T3 prime UTR variantbenign
rs19952337511:113,281,433C/T—likely benign
rs7793010011:113,281,476C/T—likely benign
rs37618648211:113,281,489A/G—uncertain significance
rs141627332811:113,281,509G/A—likely benign
rs103536522611:113,281,520C/T—uncertain significance
rs20044068611:113,281,521G/A—likely benign
rs7993256611:113,281,524G/A—likely benign
rs7165361511:113,281,545C/T—likely benign
rs75868332011:113,281,553C/T—benign
rs97428321711:113,281,632G/A—likely benign
rs77530338511:113,281,638C/T—likely benign
rs273484111:113,281,776A/T—benign
rs11410941711:113,281,816G/A—benign
rs7714253211:113,281,850C/T—benign
rs112449311:113,282,295T/Gcoding sequence variantbenign
rs5766643711:113,283,213A/C—benign
rs19989295811:113,283,271G/A—benign
rs20089066311:113,283,290C/G—uncertain significance
rs213815631611:113,283,295A/C—uncertain significance
rs77947713811:113,283,320G/T—uncertain significance
rs13887319211:113,283,337C/T—conflicting classifications of pathogenicity
rs14377971211:113,283,373T/C—uncertain significance
rs105427164211:113,283,393A/G—likely benign
rs7165361411:113,283,437T/C—likely benign
rs52794287411:113,283,449C/T—uncertain significance
rs14393514311:113,283,450G/A—likely benign
rs627711:113,283,459G/Asynonymous variantlikely benign
rs118208267711:113,283,469T/G—uncertain significance
rs90962214711:113,283,474A/G—likely benign
rs627511:113,283,477A/Gsynonymous variantbenign
rs180102811:113,283,484G/Cmissense variantbenign
rs20142279111:113,283,486C/T—benign
rs180049611:113,283,488G/Amissense variantpathogenic
rs14992636111:113,283,491C/T—uncertain significance
rs14649784611:113,283,492G/A—likely benign
rs132225080911:113,283,513G/A—likely benign
rs76535787411:113,283,517G/T—uncertain significance
rs75888451611:113,283,536G/A—uncertain significance
rs7454820811:113,283,546G/A—likely benign
rs77203034711:113,283,558G/A—likely benign
rs498692111:113,283,564G/A—benign
rs20018473011:113,283,595C/T—uncertain significance
rs102722766111:113,283,596G/A—uncertain significance
rs129907678211:113,283,600A/G—likely benign
rs107656111:113,283,680T/A—benign
rs107656011:113,283,688C/Adownstream gene variantlikely benign
rs20008402411:113,285,077T/C—benign
rs141583077511:113,285,126C/T—uncertain significance
rs8035028011:113,285,166G/A—likely benign
rs79472778211:113,285,176C/G—uncertain significance
rs251152111:113,285,299A/G—benign
rs7661462611:113,285,309G/A—benign
rs228326511:113,285,536C/Adownstream gene variantbenign
rs1236312511:113,285,916C/Tdownstream gene variantbenign
rs7798963911:113,286,008C/T—benign
rs37102396911:113,286,186C/T—uncertain significance
rs20188189111:113,286,187G/A—uncertain significance
rs76496885611:113,286,199C/T—uncertain significance
rs148769173811:113,286,217G/A—uncertain significance
rs13850914211:113,286,268C/T—uncertain significance
rs105703265611:113,286,330T/C—uncertain significance
rs76167151611:113,286,336G/A—uncertain significance
rs20213372511:113,286,337G/A—likely benign
rs20145162711:113,286,339G/A—likely benign
rs273483911:113,286,490C/Tdownstream gene variantbenign
rs273483811:113,286,501A/G—benign
rs273483711:113,286,829C/Tdownstream gene variant—
rs244039011:113,286,878C/T—benign
rs3535242111:113,287,511G/T—benign
rs254882187311:113,287,574G/A—likely benign
rs77614870811:113,287,591T/C—uncertain significance
rs14734700211:113,287,601G/A—benign
rs10489422011:113,287,657C/Tmissense variantuncertain significance
rs19951736411:113,287,668C/T—uncertain significance
rs20147183711:113,287,685C/T—uncertain significance
rs7165361211:113,287,691G/A—benign
rs180049911:113,287,694T/C—likely benign
rs76075049311:113,287,700G/C—likely benign
rs135935241211:113,287,729G/T—likely benign
rs53769983711:113,287,732G/A—likely benign
rs75080153311:113,288,754G/A—likely benign
rs159127652911:113,288,763G/A—likely benign
rs19975459211:113,288,784C/G—likely benign
rs14181110311:113,288,787C/T—likely benign
rs20113036611:113,288,814G/A—likely benign
rs19976571211:113,288,849C/T—uncertain significance
rs254882271111:113,288,855C/T—uncertain significance
rs76899501311:113,288,857A/G—uncertain significance
rs110716211:113,289,037G/A—benign
rs207565411:113,289,066C/T—benign
rs107972711:113,289,182T/Cintron variantbenign
rs180049811:113,291,588G/Aintron variant—
rs6190536311:113,291,675C/Tintron variant—
rs207565211:113,294,898G/Aintron variantbenign
rs1160818511:113,294,976T/C—benign
rs1280848211:113,294,998T/A—benign
rs7698585411:113,295,082C/T—benign

Showing 100 of 147 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

DRD2 — dopamine receptor D2 — genewizard.net