GRIK2

glutamate ionotropic receptor kainate 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 the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]

Known Variants171 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24821393326:101,847,167T/C—uncertain significance
rs24821395506:101,847,193A/G—uncertain significance
rs5649479716:101,847,208C/A—uncertain significance
rs15541936106:101,847,253C/T—uncertain significance
rs3698198686:101,847,255T/C—likely benign
rs25182246:101,906,652A/G——
rs65709896:101,957,413G/T——
rs93907546:101,964,914A/Gintron variant—
rs4870836:102,026,932T/Gintron variant—
rs7642689916:102,069,858G/A—uncertain significance
rs7655997796:102,069,913A/G—uncertain significance
rs5503517966:102,069,916T/C—likely benign
rs7803555496:102,069,923C/A—likely benign
rs1128174936:102,069,930T/C—uncertain significance
rs14600771306:102,069,931A/G—uncertain significance
rs14380475026:102,069,933C/A—likely benign
rs3700742456:102,069,969T/C—uncertain significance
rs14437791286:102,069,989A/G—uncertain significance
rs13048674506:102,069,992G/C—likely pathogenic
rs17804429296:102,074,293G/T—uncertain significance
rs2017885406:102,074,319C/T—likely benign
rs24830412896:102,074,326C/T—likely pathogenic
rs24830418236:102,074,379C/A—uncertain significance
rs15828498386:102,074,388A/T—likely benign
rs24830421036:102,074,420A/T—uncertain significance
rs17804502976:102,074,432C/T—uncertain significance
rs24830421816:102,074,441G/T—uncertain significance
rs3716065706:102,074,443C/T—uncertain significance
rs24830426896:102,074,494G/A—uncertain significance
rs13774046526:102,074,515A/G—uncertain significance
rs17708652946:102,124,537G/A—uncertain significance
rs7499954486:102,124,548C/Tstop gainedpathogenic
rs15829417746:102,124,565G/A—likely benign
rs560677026:102,124,569C/T—uncertain significance
rs7811181316:102,124,593C/T—uncertain significance
rs7459908226:102,124,618G/A—uncertain significance
rs760724966:102,124,628T/C—benign
rs14871212116:102,124,632G/A—uncertain significance
rs24833359036:102,124,644T/C—uncertain significance
rs24833359866:102,124,652T/G—uncertain significance
rs15829518876:102,130,433A/G—likely benign
rs12653409066:102,134,085C/T—likely pathogenic
rs1485657176:102,134,086G/A—uncertain significance
rs1401144746:102,134,102C/T—likely benign
rs24833811996:102,134,137C/A—uncertain significance
rs619963306:102,134,167C/G—uncertain significance
rs5317122906:102,134,177A/G—likely benign
rs1455428056:102,134,192G/A—likely benign
rs7676671886:102,134,199G/A—conflicting classifications of pathogenicity
rs3768149736:102,134,200A/C—uncertain significance
rs1467951566:102,134,201T/C—likely benign
rs343605656:102,134,216T/C—benign
rs13722062246:102,134,228G/A—uncertain significance
rs14743286666:102,247,528T/C—likely benign
rs7776020366:102,247,534T/C—likely benign
rs24840545036:102,247,535C/G—uncertain significance
rs9296740046:102,247,538A/G—uncertain significance
rs7490940966:102,247,539T/C—uncertain significance
rs17805496346:102,247,540G/A—uncertain significance
rs24840545806:102,247,545A/G—uncertain significance
rs24840546466:102,247,549T/A—likely benign
rs7511341566:102,247,556G/A—likely benign
rs7769485666:102,247,560T/G—uncertain significance
rs7568321656:102,247,571G/A—likely benign
rs9191671766:102,247,578A/C—uncertain significance
rs24840555116:102,247,626C/G—uncertain significance
rs7557778026:102,247,631C/T—uncertain significance
rs5422386436:102,247,636C/T—uncertain significance
rs5608174196:102,247,644G/T—uncertain significance
rs13078072306:102,247,662A/G—uncertain significance
rs24840559196:102,247,668T/A—uncertain significance
rs69227536:102,247,673T/C—likely benign
rs24840736556:102,250,209C/T—uncertain significance
rs24840738166:102,250,224A/T—uncertain significance
rs9140409456:102,250,227G/A—uncertain significance
rs7711934176:102,250,229C/T—likely benign
rs24840739606:102,250,241C/T—likely benign
rs5554250166:102,250,248A/T—uncertain significance
rs1455637726:102,250,275T/C—likely benign
rs3719127716:102,250,302G/A—uncertain significance
rs12591632586:102,266,242T/G—uncertain significance
rs24841776906:102,266,244G/T—likely pathogenic
rs7675567806:102,266,246T/C—uncertain significance
rs3721579376:102,266,253G/A—likely benign
rs7516629306:102,266,306C/T—conflicting classifications of pathogenicity
rs3768362566:102,266,307G/A—likely benign
rs24841785756:102,266,321C/G—uncertain significance
rs347479166:102,266,322C/G—likely benign
rs7672977776:102,266,326T/C—uncertain significance
rs7527024556:102,266,328C/T—likely benign
rs3717818096:102,307,158T/C—benign
rs1867277166:102,307,204T/C—uncertain significance
rs7504946146:102,307,259C/T—uncertain significance
rs15569956:102,317,345C/A——
rs48402006:102,327,303T/Cintron variant—
rs14171826:102,333,341G/Aintron variant—
rs7543992576:102,337,505C/T—likely benign
rs5345453846:102,337,507G/T—likely benign
rs7454229646:102,337,509C/T—likely benign
rs7796832206:102,337,511A/T—likely benign

Showing 100 of 171 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.