GRM5

glutamate metabotropic receptor 5

Summary

This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants127 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19022543211:88,241,649T/Ccoding sequence variant—
rs159130885011:88,241,944G/A—uncertain significance
rs57169594811:88,241,953T/G—uncertain significance
rs20156195711:88,241,963C/A—likely benign
rs19965684711:88,241,977C/T—uncertain significance
rs76025552911:88,241,981C/T—uncertain significance
rs20072868311:88,241,983G/A—uncertain significance
rs57620335711:88,241,993C/A—uncertain significance
rs56966869011:88,242,027C/G—benign
rs76458686411:88,242,035C/T—uncertain significance
rs76760832811:88,242,045C/T—likely benign
rs75492666011:88,242,066G/A—likely benign
rs37404448511:88,242,080T/C—uncertain significance
rs75076910711:88,242,143T/G—uncertain significance
rs76674155411:88,242,146G/A—uncertain significance
rs129046446311:88,242,153G/A—likely benign
rs213507219411:88,242,199C/T—uncertain significance
rs20133835311:88,242,249G/A—likely benign
rs20185135911:88,242,271T/G—conflicting classifications of pathogenicity
rs101201529511:88,242,276C/G—likely benign
rs18691476811:88,242,280G/A—uncertain significance
rs194127750711:88,242,290C/T—uncertain significance
rs20218895911:88,242,335T/C—uncertain significance
rs37470778711:88,242,429G/C—likely benign
rs56982688711:88,242,441G/T—likely benign
rs77947455311:88,242,461C/T—uncertain significance
rs77258392711:88,242,465G/C—likely benign
rs20023210711:88,242,467C/T—benign
rs20131798411:88,242,468C/A—likely benign
rs76406767911:88,242,480G/A—likely benign
rs20096767811:88,242,482C/T—uncertain significance
rs90164857711:88,242,500C/T—uncertain significance
rs77834073511:88,242,506C/A—uncertain significance
rs103544135311:88,242,606C/T—likely benign
rs7934513411:88,242,621C/T—benign
rs75613119911:88,242,624C/G—likely benign
rs77009259111:88,242,626G/A—uncertain significance
rs77577267911:88,242,628C/G—uncertain significance
rs54837816711:88,258,508T/C—uncertain significance
rs18909026811:88,259,867T/Cdownstream gene variant—
rs19961439611:88,300,241G/T—benign
rs133048212111:88,300,275G/T—uncertain significance
rs87925534711:88,300,277T/A—uncertain significance
rs249589847911:88,300,309C/T—uncertain significance
rs36963354211:88,300,346G/A—likely benign
rs76864188211:88,300,391C/T—likely benign
rs123920666511:88,300,396C/A—uncertain significance
rs20068710411:88,300,436C/T—likely benign
rs19991663011:88,300,511C/T—likely benign
rs6174042311:88,300,631A/C—benign
rs20111690011:88,300,696T/C—uncertain significance
rs13989803311:88,300,724A/T—benign
rs11701797411:88,300,726C/G—uncertain significance
rs20220965711:88,300,756T/G—uncertain significance
rs159135418611:88,300,805G/C—likely benign
rs5593388211:88,300,817C/T—likely benign
rs14580191211:88,300,963A/G—benign
rs7876234111:88,301,164C/A—likely benign
rs6190196911:88,302,228C/Tintron variant—
rs14117149911:88,302,627T/Cregulatory region variant—
rs1691428011:88,321,724C/Tintron variant—
rs20103682311:88,323,773G/A—likely benign
rs159137201111:88,330,418T/C—likely benign
rs249599797111:88,330,465C/T—uncertain significance
rs118595656411:88,330,509A/G—uncertain significance
rs249602250611:88,337,919A/G—uncertain significance
rs6174117511:88,337,922G/A—benign
rs20073849711:88,338,014A/G—benign
rs6174577011:88,338,074G/A—benign
rs14747271611:88,338,092T/C—benign
rs5770075111:88,354,364T/Cintron variant—
rs14336763411:88,363,642C/Tintron variant—
rs77479096011:88,386,359C/T—uncertain significance
rs7996438511:88,386,361G/A—likely benign
rs20148897411:88,386,377C/G—uncertain significance
rs20105078711:88,386,386C/T—uncertain significance
rs249618670111:88,386,401T/C—uncertain significance
rs19991859811:88,386,578G/C—benign
rs6021155611:88,428,719C/Tintron variant—
rs19057924311:88,431,270A/Gintron variant—
rs7296252711:88,446,362T/Cintron variant—
rs648341411:88,477,214T/Cintron variant—
rs648341611:88,477,340G/Tintron variant—
rs53711511511:88,480,867A/T——
rs711974911:88,515,022A/Gintron variant—
rs1279779811:88,530,555G/Aintron variant—
rs400239711:88,532,902A/Gintron variant—
rs648346511:88,534,836G/Tintron variant—
rs7146921611:88,536,451G/C——
rs1083149611:88,557,991A/T——
rs77555971411:88,583,117T/C—uncertain significance
rs20029807311:88,583,139C/T—likely benign
rs194436168811:88,583,161G/A—uncertain significance
rs20205528711:88,583,173G/A—uncertain significance
rs156526071411:88,583,188C/G—not provided
rs249580973011:88,583,227C/T—uncertain significance
rs194436389211:88,583,257G/A—uncertain significance
rs59895211:88,587,956T/C——
rs63391811:88,614,856T/Cintron variant—
rs68182011:88,615,547A/C——

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.