CACNA1D (Q01668) variants and mutations

CACNA1D (also known as Q01668) is a human protein-coding gene encoding a voltage-dependent L-type calcium channel subunit alpha-1D protein. It supports calcium entry in endocrine cells, neurons, and cardiac pacemaker tissue, influencing hormone secretion, neuronal excitability, and sinoatrial activity. Activating variants can cause primary aldosteronism with seizures and neurologic abnormalities, while other variants cause neurodevelopmental or hearing phenotypes. This analysis covers 2,678 CACNA1D variants and mutations. Of these, 62% have computational variant effect predictions. Disease context includes aldosterone-producing adenoma with seizures and neurological abnormalities, hypertensive disorder, and sinoatrial node dysfunction and deafness. Example CACNA1D variants include M2T, M3V, and M3I.

Variant analysis overview

Gene: CACNA1D
Protein: Q01668
UniProt accession: Q01668
Organism: Homo sapiens
Variants analyzed: 2678
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 2,441 unspecified-consequence records; 3 in-frame deletions; 15 frameshift variants; 78 synonymous variants; 5 stop-gained variants; 131 missense variants; 1 in-frame insertions; 3 splice-region variants; 1 substitution
Prediction scores: 1,655 variants have prediction scores (62% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: aldosterone-producing adenoma with seizures and neurological abnormalities, hypertensive disorder, sinoatrial node dysfunction and deafness, cardiovascular disorder, atrial fibrillation, diabetes mellitus, heart failure, epilepsy, Hypertension, coronary artery disorder, Prinzmetal angina, Seizure.

Protein structure and variant hotspots

Protein features: 24 transmembrane segments; 3 binding sites; 3 post-translational modification sites.
Structural context: 447 variants have structural context.
PTM context: 5 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, ClinGen, MaveDB, LitVar.

Notable CACNA1D variants

Examples include M2T, M3V, M3I, M4I, M4T, M4V, M5I, M6I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

CACNA1D analysis run — CACNA1D (2,678 variants) — completed 2026-08-20