BDNF (P23560) variants and mutations

BDNF (also known as P23560) is a human protein-coding gene encoding a neurotrophic factor BDNF precursor form protein. It supports neuronal survival, synaptic maturation, plasticity, and activity-dependent remodeling by activating TrkB signaling. Altered BDNF signaling has broad effects on cognition, mood, metabolism, and neurodevelopment, although most common human variation has modest and context-dependent effects. This analysis covers 562 BDNF variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes Abnormality of the skeletal system, obesity disorder, and smoking initiation. Example BDNF variants include T2I, T2N, and T2S.

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, MaveDB, LitVar.

Notable BDNF variants

Examples include T2I, T2N, T2S, I3N, I3M, L4I, L4V, F5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.