GRIN2B (Glutamate receptor) variants and mutations

GRIN2B (also known as Glutamate receptor) is a human protein-coding gene encoding a glutamate receptor protein. The GluN2B subunit of NMDA glutamate receptors, ion channels that mediate excitatory signaling in the brain. Pathogenic variants can disrupt neuronal development and cause neurodevelopmental disorders, sometimes with epilepsy. This analysis covers 1 GRIN2B variants and mutations. Disease context includes intellectual disability, autosomal dominant 6, developmental and epileptic encephalopathy, 27, and Alzheimer disease. Example GRIN2B variants include G377R.

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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Diseases linked to GRIN2B

Notable GRIN2B variants

Examples include G377R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.