GRIA2 (Glutamate receptor 2) variants and mutations

GRIA2 (also known as Glutamate receptor 2) is a human protein-coding gene encoding a glutamate receptor 2 protein. An AMPA-type glutamate receptor subunit that contributes to fast excitatory signaling in the nervous system. Together with other subunits it forms a glutamate-gated cation channel, and its presence helps shape the channel's ion permeability and synaptic behavior. This analysis covers 93 GRIA2 variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes neurodevelopmental disorder with language impairment and behavioral abnormalitie, epilepsy, and migraine disorder. Example GRIA2 variants include Q2*, Q2K, and Q2R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable GRIA2 variants

Examples include Q2*, Q2K, Q2R, Q2L, Q2Q, K3R, K3N, I4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.