GRIA2

glutamate ionotropic receptor AMPA type subunit 2

Summary

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]

Known Variants128 total

rsidPosition (GRCh37)AllelesClassClinVar
rs25302532224:158,142,207A/T—uncertain significance
rs13688802584:158,142,208T/C—uncertain significance
rs25302532874:158,142,217C/A—uncertain significance
rs25302535004:158,142,259T/G—uncertain significance
rs25302535434:158,142,264T/C—uncertain significance
rs791634744:158,142,820G/T—benign
rs12458141934:158,142,840C/T—uncertain significance
rs1404401474:158,142,856T/C—likely benign
rs21266693134:158,142,870G/A—uncertain significance
rs25302569624:158,142,872A/G—uncertain significance
rs1492673374:158,215,023G/Cintron variant—
rs7813170174:158,224,720G/A—likely benign
rs17337102934:158,224,761C/G—uncertain significance
rs25306203624:158,224,763G/A—uncertain significance
rs7534665644:158,224,798C/T—likely benign
rs25306206634:158,224,814C/T—uncertain significance
rs2011935594:158,224,858G/A—benign
rs1382627294:158,224,864C/T—likely benign
rs7615008964:158,224,887G/A—uncertain significance
rs14155283274:158,224,910G/A—uncertain significance
rs17337211544:158,224,929A/G—uncertain significance
rs7494968044:158,224,951A/G—likely benign
rs7479888184:158,233,848G/T—uncertain significance
rs1442883334:158,233,851G/T—uncertain significance
rs7591230784:158,233,876A/G—uncertain significance
rs13970573434:158,233,884G/C—uncertain significance
rs1506425824:158,233,908A/C—uncertain significance
rs7655973964:158,233,933T/G—uncertain significance
rs7748078054:158,234,012C/T—likely benign
rs25306573654:158,234,016A/G—uncertain significance
rs43025064:158,238,830T/Csynonymous variantbenign
rs1999506094:158,238,831G/A—uncertain significance
rs17343865874:158,238,842C/A—pathogenic
rs25306769594:158,238,882A/T—likely benign
rs17345622384:158,242,608C/G—uncertain significance
rs21269055764:158,242,656G/A—uncertain significance
rs349092074:158,242,658G/A—likely benign
rs17345643834:158,242,665G/A—uncertain significance
rs1401702804:158,242,671T/G—benign
rs1997360674:158,242,673G/A—likely benign
rs782669604:158,242,674T/C—benign
rs25306908744:158,242,699G/A—likely pathogenic
rs14899936574:158,242,707C/T—likely benign
rs1473498074:158,242,731G/T—uncertain significance
rs25306913934:158,242,756G/C—uncertain significance
rs5495181904:158,253,961T/C—likely benign
rs344606064:158,253,979T/C—benign
rs17351161934:158,253,993A/G—likely pathogenic
rs1435050034:158,254,055C/T—likely pathogenic
rs1425382824:158,254,056G/A—likely benign
rs7710561904:158,254,113T/C—uncertain significance
rs1473705854:158,254,473A/G—benign
rs21269332654:158,254,476A/G—uncertain significance
rs3701844654:158,254,492A/G—uncertain significance
rs7588488364:158,254,497C/T—uncertain significance
rs7667858214:158,254,500C/T—uncertain significance
rs7674326784:158,254,501G/A—likely benign
rs3682218894:158,254,507T/C—not provided
rs25307418964:158,255,164T/G—uncertain significance
rs25307421334:158,255,205C/T—uncertain significance
rs25307498164:158,256,819A/G—uncertain significance
rs7704753204:158,256,831G/A—likely benign
rs25307505374:158,256,947C/G—uncertain significance
rs25307506004:158,256,952G/T—uncertain significance
rs25307506594:158,256,967T/C—uncertain significance
rs17352589644:158,256,974C/T—uncertain significance
rs7786230184:158,256,989C/G—uncertain significance
rs7559842264:158,257,544A/G—uncertain significance
rs25307538094:158,257,578A/T—uncertain significance
rs12339908404:158,257,598C/T—uncertain significance
rs17352945014:158,257,637C/A—likely pathogenic
rs21269401424:158,257,644A/T—likely pathogenic
rs10470756784:158,257,645G/A—likely benign
rs25307541114:158,257,653C/T—uncertain significance
rs17352952454:158,257,683C/G—uncertain significance
rs25307544384:158,257,722G/A—likely pathogenic
rs5389816214:158,257,765C/A—likely pathogenic
rs21269403514:158,257,797G/A—uncertain significance
rs17353003574:158,257,815A/C—uncertain significance
rs7485125814:158,257,816A/C—uncertain significance
rs21269405124:158,257,874C/G—likely pathogenic
rs17353037544:158,257,880G/A—likely pathogenic
rs15539569584:158,257,886G/A—conflicting classifications of pathogenicity
rs17353044324:158,257,893C/T—uncertain significance
rs5754180414:158,257,894G/A—benign
rs7781388004:158,262,408G/T—likely benign
rs13502558684:158,262,420C/T—uncertain significance
rs25307756064:158,262,430G/A—likely pathogenic
rs25307756704:158,262,454T/C—likely pathogenic
rs15793775644:158,262,486G/T—likely pathogenic
rs25307758214:158,262,487C/G—likely pathogenic
rs25307758574:158,262,495G/C—uncertain significance
rs21269517574:158,262,498G/A—pathogenic
rs7617539664:158,262,503C/A—likely pathogenic
rs21269517734:158,262,508C/A—likely pathogenic
rs7650727364:158,262,510G/C—pathogenic
rs15793775864:158,262,511T/C—pathogenic
rs25307759584:158,262,519A/G—uncertain significance
rs17355407344:158,262,555A/G—uncertain significance
rs1141928414:158,281,029C/T—likely benign

Showing 100 of 128 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.