GRIA1 (Glutamate receptor 1) variants and mutations

GRIA1 (also known as Glutamate receptor 1) is a human protein-coding gene encoding a glutamate receptor 1 protein. An AMPA-type glutamate receptor subunit that forms a ligand-gated cation channel at excitatory synapses. Glutamate opens the receptor to convert a chemical signal into an electrical response, supporting fast transmission and activity-dependent plasticity in the brain. This analysis covers 1,369 GRIA1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes intellectual developmental disorder, autosomal dominant 67, epilepsy, and migraine disorder. Example GRIA1 variants include Q2Q, H3N, and H3H.

Variant analysis overview

Gene: GRIA1
Protein: Glutamate receptor 1
UniProt accession: P42261
Organism: Homo sapiens
Variants analyzed: 1369
Variant scope: all variants
Completed: 2026-07-13

Variant and mutation evidence

Variant composition: 1,205 unspecified-consequence records; 82 missense variants; 73 synonymous variants; 1 in-frame deletions; 2 stop-gained variants; 2 splice-region variants; 4 frameshift variants
Prediction scores: 1,135 variants have prediction scores (83% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: intellectual developmental disorder, autosomal dominant 67, epilepsy, migraine disorder, alcohol dependence, Seizure, Lennox-Gastaut syndrome, obesity disorder, focal epilepsy, schizophrenia, diabetic neuropathy, type 2 diabetes mellitus, intellectual developmental disorder, autosomal recessive 76.

Protein structure and variant hotspots

Protein features: 3 transmembrane segments; 6 binding sites; 10 post-translational modification sites.
Structural context: 61 variants have structural context.
PTM context: 13 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, PharmGKB, MaveDB, LitVar.

Notable GRIA1 variants

Examples include Q2Q, H3N, H3H, H3D, H3R, I4F, I4V, F5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

GRIA1 analysis run — GRIA1 (1,369 variants) — completed 2026-07-13
GRIA1 analysis run — GRIA1 (1,369 variants) — completed 2026-07-13