AQP2 (Aquaporin-2) variants and mutations

AQP2 (also known as Aquaporin-2) is a human protein-coding gene encoding an aquaporin-2 protein. It is inserted into the collecting-duct apical membrane in response to vasopressin, allowing water reabsorption and concentration of urine. Pathogenic variants cause nephrogenic diabetes insipidus, usually recessive for loss-of-function alleles and sometimes dominant through abnormal intracellular trafficking. This analysis covers 675 AQP2 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes diabetes insipidus, nephrogenic, autosomal, nephrogenic diabetes insipidus, and neurodegenerative disease. Example AQP2 variants include M1I, W2*, and W2S.

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 AQP2 variants

Examples include M1I, W2*, W2S, E3*, E3K, E3Q, E3E, L4P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.