GRIA4

glutamate ionotropic receptor AMPA type subunit 4

Summary

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]

Known Variants129 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8016079011:105,481,038T/C—benign
rs213523512411:105,481,634G/C—uncertain significance
rs75019543311:105,481,729G/A—uncertain significance
rs7949546311:105,481,776C/G—uncertain significance
rs92730205111:105,481,794C/T—uncertain significance
rs15057769511:105,481,807A/C—likely benign
rs76271430711:105,483,018G/A—uncertain significance
rs213524117811:105,483,077C/T—uncertain significance
rs129490166811:105,483,080A/C—uncertain significance
rs249635338811:105,483,101A/G—uncertain significance
rs249635353811:105,483,125A/C—uncertain significance
rs249635363111:105,483,135C/T—uncertain significance
rs249635364511:105,483,141G/A—uncertain significance
rs195050413911:105,483,144T/C—uncertain significance
rs249635379411:105,483,166G/C—uncertain significance
rs317011:105,513,061A/Tintron variant—
rs1160123911:105,556,598C/T——
rs195476111:105,596,885T/G——
rs1089586911:105,600,358A/T——
rs89660279011:105,623,735T/A—uncertain significance
rs249708307811:105,623,739A/G—uncertain significance
rs14971148911:105,623,771T/C—likely benign
rs249708350211:105,623,800A/G—likely pathogenic
rs14782802111:105,623,811A/G—uncertain significance
rs213569523711:105,623,823T/G—uncertain significance
rs55843219611:105,623,835G/T—uncertain significance
rs249708392611:105,623,844C/G—uncertain significance
rs249708393711:105,623,848T/G—uncertain significance
rs74552357411:105,623,870G/A—likely benign
rs222987811:105,623,895C/T—benign
rs249708428811:105,623,899A/T—uncertain significance
rs7675541111:105,668,453A/C—benign
rs52962561911:105,668,587A/G—benign
rs37073137411:105,732,774T/C—conflicting classifications of pathogenicity
rs249758151711:105,732,798G/A—likely pathogenic
rs11432328211:105,732,835T/G—likely benign
rs76915868911:105,732,876A/G—uncertain significance
rs14303308711:105,732,924T/C—likely benign
rs213605068611:105,742,323T/C—uncertain significance
rs7354281211:105,755,359C/Aintron variant—
rs74703318611:105,758,280T/C—likely benign
rs143919799811:105,769,031G/A—uncertain significance
rs249778084311:105,769,057G/T—uncertain significance
rs56433235311:105,769,058T/C—likely benign
rs76565844611:105,769,085A/C—conflicting classifications of pathogenicity
rs249778130711:105,769,090A/T—uncertain significance
rs37524732211:105,769,101G/T—uncertain significance
rs6175152511:105,774,533T/C—benign
rs76733651411:105,774,573G/A—uncertain significance
rs15023701111:105,774,592G/A—uncertain significance
rs249781344811:105,774,603A/T—uncertain significance
rs14922998111:105,774,637C/T—uncertain significance
rs249781437011:105,774,671G/A—uncertain significance
rs75922238511:105,774,682T/C—uncertain significance
rs18270677811:105,774,699C/T—uncertain significance
rs249785210611:105,781,164G/C—uncertain significance
rs249785215711:105,781,168A/T—uncertain significance
rs249785235811:105,781,188T/G—uncertain significance
rs249785281411:105,781,213C/T—uncertain significance
rs13895449711:105,781,218G/C—uncertain significance
rs249785308611:105,781,233G/A—uncertain significance
rs78090590711:105,781,236A/G—uncertain significance
rs213616423411:105,781,239G/C—uncertain significance
rs249785341111:105,781,261C/A—uncertain significance
rs148119915611:105,789,463A/G—uncertain significance
rs76907419311:105,789,494G/A—likely benign
rs249789379611:105,789,538A/T—uncertain significance
rs249789387111:105,789,546A/G—uncertain significance
rs119963124211:105,789,584T/C—likely benign
rs249789427111:105,789,599A/C—likely benign
rs249789429811:105,789,601A/C—likely benign
rs76039880711:105,795,122T/C—uncertain significance
rs249791855811:105,795,182G/A—uncertain significance
rs249791872911:105,795,212A/G—uncertain significance
rs194765544211:105,795,309C/T—uncertain significance
rs249791936611:105,795,315T/C—uncertain significance
rs77137956311:105,795,383G/A—uncertain significance
rs20020599711:105,795,386G/A—conflicting classifications of pathogenicity
rs11560128111:105,795,460T/G—likely benign
rs75945911011:105,797,522A/G—uncertain significance
rs249792908211:105,797,523T/C—uncertain significance
rs155505015811:105,797,534A/T—pathogenic
rs213619891811:105,797,537G/T—pathogenic
rs155505016511:105,797,540A/G—likely pathogenic
rs155505017111:105,797,547C/G—pathogenic
rs155505017411:105,797,550C/T—likely pathogenic
rs249792933311:105,797,562T/C—uncertain significance
rs249792941311:105,797,572G/A—uncertain significance
rs213619904511:105,797,592C/T—uncertain significance
rs249792957211:105,797,594G/A—uncertain significance
rs249792967811:105,797,604C/T—uncertain significance
rs249792975111:105,797,613C/G—uncertain significance
rs213619918011:105,797,655A/G—uncertain significance
rs126255705311:105,804,432T/C—likely benign
rs37660480411:105,804,485A/G—uncertain significance
rs76555621411:105,804,491G/Cmissense variantpathogenic
rs249796575911:105,804,500A/G—uncertain significance
rs144000837211:105,804,518G/C—uncertain significance
rs91988328811:105,804,528T/C—likely benign
rs159146197011:105,804,610C/T—likely pathogenic

Showing 100 of 129 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.