GRIN2A (Q12879) variants and mutations

GRIN2A (also known as Q12879) is a human protein-coding gene encoding a glutamate receptor ionotropic, NMDA 2A protein. It helps determine the kinetics and signaling properties of NMDA receptors, particularly in cortical circuits involved in language and epilepsy. Pathogenic variants cause a spectrum of developmental epileptic encephalopathies and epilepsy-aphasia disorders. This analysis covers 5,068 GRIN2A variants and mutations. Of these, 54% have computational variant effect predictions. Disease context includes Landau-Kleffner syndrome, Rolandic epilepsy, and early-onset epileptic encephalopathy and intellectual disability due to GRIN2A m. Example GRIN2A variants include M1I, M1L, and M1T.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable GRIN2A variants

Examples include M1I, M1L, M1T, G2D, G2S, R3*, V4A, V4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.