GRIA3

glutamate ionotropic receptor AMPA type subunit 3

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 at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]

Known Variants410 total

rsidPosition (GRCh37)AllelesClassClinVar
rs746204831X:122,317,820G/Clikely benign
rs374449092X:122,318,372T/Cbenign
rs752728469X:122,318,389T/Cconflicting classifications of pathogenicity
rs781094406X:122,318,397C/Auncertain significance
rs745873343X:122,318,398A/Tlikely benign
rs1457703957X:122,318,401A/Cuncertain significance
rs61740996X:122,318,402G/Abenign
rs2520418046X:122,318,407T/Cuncertain significance
rs2520418095X:122,318,413A/Cuncertain significance
rs779764392X:122,318,422T/Cuncertain significance
rs2520418302X:122,318,425G/Auncertain significance
rs1443326387X:122,318,427G/Auncertain significance
rs937720275X:122,318,429G/Alikely benign
rs140014006X:122,318,430G/Aconflicting classifications of pathogenicity
rs747644263X:122,318,442G/Auncertain significance
rs896354134X:122,318,444C/Alikely benign
rs746285416X:122,318,451C/Auncertain significance
rs2520418732X:122,318,453T/Glikely benign
rs1927197500X:122,318,455T/Guncertain significance
rs759740734X:122,318,456G/Aconflicting classifications of pathogenicity
rs868658758X:122,318,460C/Tuncertain significance
rs2520418881X:122,318,463T/Auncertain significance
rs765395672X:122,318,474A/Tlikely benign
rs758469536X:122,318,491G/Auncertain significance
rs764200669X:122,318,493A/Gconflicting classifications of pathogenicity
rs2147242884X:122,318,497G/Auncertain significance
rs2520419213X:122,318,501G/Auncertain significance
rs756076055X:122,318,502C/Tuncertain significance
rs779829666X:122,318,507G/Clikely benign
rs758668213X:122,318,511G/Clikely benign
rs780417148X:122,318,516C/Tlikely benign
rs112616639X:122,318,770C/Tbenign
rs376191681X:122,319,641T/Alikely benign
rs760547182X:122,319,667G/Alikely benign
rs200671864X:122,319,672C/Tlikely benign
rs2147244054X:122,319,697G/Cuncertain significance
rs2520429257X:122,319,699G/Auncertain significance
rs1362682009X:122,319,706A/Tlikely benign
rs754693937X:122,319,721C/Tlikely benign
rs1927257518X:122,319,724T/Clikely benign
rs1298313682X:122,319,727C/Tlikely benign
rs145583732X:122,319,733T/Guncertain significance
rs758158942X:122,319,736C/Tconflicting classifications of pathogenicity
rs1927258484X:122,319,737G/Auncertain significance
rs770034691X:122,319,796C/Tlikely benign
rs1927261779X:122,319,806T/Auncertain significance
rs1385977522X:122,319,823T/Clikely benign
rs2520430494X:122,319,827T/Cuncertain significance
rs1456555180X:122,319,829C/Tlikely benign
rs774614482X:122,319,850G/Tlikely benign
rs2269551X:122,319,917T/Cbenign
rs73229252X:122,320,013T/Abenign
rs1927781157X:122,336,633G/Auncertain significance
rs989638X:122,373,107C/G
rs3747322X:122,386,936A/Gbenign
rs182532947X:122,387,013G/Tlikely benign
rs2520692220X:122,387,134T/Clikely benign
rs2147282593X:122,387,135T/Clikely benign
rs1271388862X:122,387,164G/Alikely benign
rs2044401272X:122,387,169C/Tlikely benign
rs368530347X:122,387,170G/Alikely benign
rs764021250X:122,387,172G/Cuncertain significance
rs2520692544X:122,387,192G/Tlikely pathogenic
rs756957362X:122,387,213A/Gconflicting classifications of pathogenicity
rs746409680X:122,387,214T/Cuncertain significance
rs749960617X:122,387,221C/Alikely benign
rs766567391X:122,387,227C/Tbenign
rs2147282636X:122,387,241C/Tuncertain significance
rs751876024X:122,387,254C/Tlikely benign
rs755309623X:122,387,263G/Alikely benign
rs148560712X:122,387,264C/Guncertain significance
rs2520692967X:122,387,273C/Tuncertain significance
rs142947328X:122,387,275C/Tlikely benign
rs192636764X:122,387,281C/Tlikely benign
rs151086692X:122,387,282G/Aconflicting classifications of pathogenicity
rs1297105927X:122,387,285G/Auncertain significance
rs772661218X:122,387,287T/Clikely benign
rs371539507X:122,387,288G/Auncertain significance
rs2520693105X:122,387,292A/Guncertain significance
rs771205448X:122,387,304A/Gconflicting classifications of pathogenicity
rs775540855X:122,387,309C/Tuncertain significance
rs763033824X:122,387,310G/Aconflicting classifications of pathogenicity
rs1226381543X:122,387,311C/Tlikely benign
rs1267207491X:122,387,315G/Aconflicting classifications of pathogenicity
rs1206751846X:122,387,321A/Guncertain significance
rs986299564X:122,387,325G/Auncertain significance
rs200503976X:122,387,326C/Tlikely benign
rs761306897X:122,387,327G/Auncertain significance
rs34670241X:122,387,329T/Glikely benign
rs2520693609X:122,387,343T/Cuncertain significance
rs144902457X:122,387,351T/Cmissense variantuncertain significance
rs1182591148X:122,387,356G/Cuncertain significance
rs2520693883X:122,387,373A/Guncertain significance
rs2520693918X:122,387,375C/Guncertain significance
rs1217897149X:122,387,380T/Clikely benign
rs2147282729X:122,387,397A/Cuncertain significance
rs755589194X:122,387,408C/Tlikely benign
rs2520694220X:122,387,410G/Alikely benign
rs4825474X:122,387,642A/Tbenign
rs1034428X:122,437,048A/C

Showing 100 of 410 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.