AQP7 (Aquaporin-7) variants and mutations

AQP7 (also known as Aquaporin-7) is a human protein-coding gene encoding an aquaporin-7 protein. It facilitates glycerol movement across adipocyte and renal membranes and contributes to systemic glycerol and energy metabolism. Genetic variation has been investigated for effects on obesity and metabolic traits, while complete deficiency appears uncommon in humans. This analysis covers 744 AQP7 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes lung adenocarcinoma, atopic eczema, and COVID-19. Example AQP7 variants include V2F, V2I, and A4V.

Variant analysis overview

Gene: AQP7
Protein: Aquaporin-7
UniProt accession: O14520
Organism: Homo sapiens
Variants analyzed: 744
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 503 unspecified-consequence records; 1 stop retained variant; 88 synonymous variants; 116 missense variants; 20 frameshift variants; 3 stop lost; 3 stop-gained variants; 3 in-frame deletions; 3 splice-region variants; 1 in-frame insertions; 1 substitution
Prediction scores: 584 variants have prediction scores (78% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: lung adenocarcinoma, atopic eczema, COVID-19, familial idiopathic steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, nephrotic syndrome, nephronophthisis, idiopathic hypercalciuria, primary hyperoxaluria type 3, hepatocellular carcinoma, proteinuria, chronic benign, uridine-cytidineuria.

Protein structure and variant hotspots

Protein features: 6 transmembrane segments; 1 post-translational modification sites.
Structural context: 246 variants have structural context.

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 AQP7 variants

Examples include V2F, V2I, A4V, S5A, G6R, H7N, H7Q, R8K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

AQP7 analysis run — AQP7 (744 variants) — completed 2026-08-20