AVPR2 (Vasopressin V2 receptor) variants and mutations

AVPR2 (also known as Vasopressin V2 receptor) is a human protein-coding gene encoding a vasopressin V2 receptor protein. Its annotated function is g protein-coupled receptor for arginine vasopressin, an antidiuretic that promotes renal water reabsorption. It is annotated at the cell membrane. This analysis covers 872 AVPR2 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes nephrogenic diabetes insipidus, nephrogenic syndrome of inappropriate antidiuresis, and Hyponatremia. Example AVPR2 variants include M1?, L2P, and M3I.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable AVPR2 variants

Examples include M1?, L2P, M3I, M3V, M3L, A4T, A4V, A4E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.