SLC34A3 (Q8N130) variants and mutations

SLC34A3 (also known as Q8N130) is a human protein-coding gene encoding a sodium-dependent phosphate transport protein 2C protein. It reabsorbs phosphate in the renal proximal tubule under hormonal control and is essential for maintaining serum phosphate and bone mineralization. Biallelic or dominant pathogenic variants can cause hereditary hypophosphatemic rickets with hypercalciuria. This analysis covers 1,218 SLC34A3 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes hereditary hypophosphatemic rickets with hypercalciuria, hereditary disease, and nephrolithiasis. Example SLC34A3 variants include M1?, M1I, and M1T.

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, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SLC34A3 variants

Examples include M1?, M1I, M1T, P2L, P2R, P2S, P2P, S3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.