CACNB2 (Q08289) variants and mutations

CACNB2 (also known as Q08289) is a human protein-coding gene encoding a voltage-dependent L-type calcium channel subunit beta-2 protein. It regulates gating and membrane delivery of high-voltage-activated calcium channels, including cardiac Cav1.2. Rare pathogenic variants have been associated with cardiac arrhythmia and neurodevelopmental phenotypes, although variant-specific evidence is important when interpreting causality. This analysis covers 1,243 CACNB2 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes epilepsy, neuropathic pain, and fibromyalgia. Example CACNB2 variants include M1I, M1V, and V2A.

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, MaveDB, LitVar.

Notable CACNB2 variants

Examples include M1I, M1V, V2A, V2F, V2I, V2V, Q3R, Q3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.