CASR (P41180) variants and mutations

CASR (also known as P41180) is a human protein-coding gene encoding an extracellular calcium-sensing receptor protein. It senses extracellular calcium in the parathyroid gland and kidney and adjusts parathyroid-hormone secretion and renal calcium handling accordingly. Loss-of-function variants cause familial hypocalciuric hypercalcemia or neonatal severe hyperparathyroidism, whereas activating variants cause autosomal dominant hypocalcemia. This analysis covers 2,483 CASR variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes familial hypocalciuric hypercalcemia 1, autosomal dominant hypocalcemia 1, and Familial hypocalciuric hypercalcemia type 1. Example CASR variants include M1L, M1R, 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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CASR variants

Examples include M1L, M1R, M1T, M1V, A2E, A2T, A2A, F3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.