SLC12A1 (Q13621) variants and mutations

SLC12A1 (also known as Q13621) is a human protein-coding gene encoding a solute carrier family 12 member 1 protein. It reabsorbs sodium, potassium, and chloride in the thick ascending limb of the kidney, helping generate the medullary concentration gradient and maintain salt balance. Biallelic loss-of-function variants cause Bartter syndrome type 1 with renal salt wasting. This analysis covers 1,860 SLC12A1 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes Bartter disease type 1, Bartter syndrome, and nephrotic syndrome. Example SLC12A1 variants include S2L, S2*, and S2S.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SLC12A1 variants

Examples include S2L, S2*, S2S, L3L, L3M, N4N, N5D, N5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.