CACNA1B (Q00975) variants and mutations

CACNA1B (also known as Q00975) is a human protein-coding gene encoding a voltage-dependent N-type calcium channel subunit alpha-1B protein. The protein forms the alpha-1B pore of an N-type voltage-gated calcium channel. These channels help control calcium entry at nerve terminals, neurotransmitter release, and pain signaling, with especially important activity in the central nervous system. This analysis covers 3,259 CACNA1B variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes Seizure, neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movemen, and epilepsy. Example CACNA1B variants include V2I, V2A, and V2G.

Variant analysis overview

Gene: CACNA1B
Protein: Q00975
UniProt accession: Q00975
Organism: Homo sapiens
Variants analyzed: 3259
Variant scope: all variants
Completed: 2026-07-23

Variant and mutation evidence

Variant composition: 2,874 unspecified-consequence records; 242 missense variants; 89 synonymous variants; 38 frameshift variants; 10 stop-gained variants; 3 in-frame deletions; 2 in-frame insertions; 1 substitution
Prediction scores: 2,351 variants have prediction scores (72% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Seizure, neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movemen, epilepsy, Bilateral tonic-clonic seizure, neuropathic pain, fibromyalgia, restless legs syndrome, postherpetic neuralgia, anxiety disorder, neuralgia, Pain, Focal-onset seizure.

Protein structure and variant hotspots

Protein features: 24 transmembrane segments; 1 domains; 7 binding sites; 13 post-translational modification sites.
Structural context: 543 variants have structural context.
PTM context: 18 variants overlap post-translational modification sites.

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 CACNA1B variants

Examples include V2I, V2A, V2G, R3L, R3S, R3H, R3R, F4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

CACNA1B analysis run — CACNA1B (3,259 variants) — completed 2026-07-23