GRIN2B (Glutamate receptor) variants and mutations

GRIN2B (also known as Glutamate receptor) is a human protein-coding gene encoding a glutamate receptor protein. Its annotated function is receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the…. It is annotated at the postsynaptic cell membrane. 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.

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.