SLC8A1 (Sodium/calcium exchanger 1) variants and mutations

SLC8A1 (also known as Sodium/calcium exchanger 1) is a human protein-coding gene encoding a sodium/calcium exchanger 1 protein. It exchanges intracellular calcium for extracellular sodium and is a major route for calcium extrusion in cardiomyocytes after contraction. Altered activity can strongly influence calcium loading and arrhythmogenesis, while rare pathogenic variants cause cardiac and neurodevelopmental phenotypes. This analysis covers 1,757 SLC8A1 variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes Abnormality of the skeletal system, hypertensive disorder, and smoking initiation. Example SLC8A1 variants include Y2*, Y2F, and N3D.

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 SLC8A1 variants

Examples include Y2*, Y2F, N3D, N3H, N3S, M4I, M4T, R5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.