AQP3 (Aquaporin-3) variants and mutations

AQP3 (also known as Aquaporin-3) is a human protein-coding gene encoding an aquaporin-3 protein. It transports water and small neutral solutes such as glycerol across epithelial membranes and contributes to skin hydration, cell migration, and metabolic homeostasis. Rare loss-of-function variants define the GIL blood-group system and can alter epithelial water and glycerol handling. This analysis covers 500 AQP3 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes neurodegenerative disease, COVID-19, and atopic eczema. Example AQP3 variants include G2S, R3L, and Q4L.

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 AQP3 variants

Examples include G2S, R3L, Q4L, Q4P, K5R, L7P, V8L, S9C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.