GRIN2B (Q13224) variants and mutations

GRIN2B (also known as Q13224) is a human protein-coding gene encoding a glutamate receptor ionotropic, NMDA 2B protein. It confers distinct developmental and signaling properties on NMDA receptors and is highly expressed during early brain development. De novo pathogenic variants can cause intellectual disability, developmental delay, epilepsy, abnormal movements, and autism-related phenotypes. This analysis covers 184 GRIN2B variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes intellectual disability, autosomal dominant 6, developmental and epileptic encephalopathy, 27, and Alzheimer disease. Example GRIN2B variants include M1I, M1T, and V15M.

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, ClinGen, MaveDB, LitVar.

Notable GRIN2B variants

Examples include M1I, M1T, V15M, V18I, L19P, L19I, L19Q, R25I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.