VWF (von Willebrand factor) variants and mutations

VWF (also known as von Willebrand factor) is a human protein-coding gene encoding a von Willebrand factor protein. It tethers platelets to damaged vessel walls and carries factor VIII in the circulation, linking primary hemostasis with coagulation. Quantitative or qualitative pathogenic variants cause von Willebrand disease, the most common inherited bleeding disorder. This analysis covers 3,766 VWF variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes Von Willebrand disease, von Willebrand disease 3, and von Willebrand disease 2. Example VWF variants include P3S, R5G, and R5I.

Variant analysis overview

Gene: VWF
Protein: von Willebrand factor
UniProt accession: P04275
Organism: Homo sapiens
Variants analyzed: 3766
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 3,577 unspecified-consequence records; 74 synonymous variants; 89 missense variants; 4 splice-region variants; 3 in-frame deletions; 16 frameshift variants; 2 stop-gained variants; 1 substitution
Prediction scores: 3,463 variants have prediction scores (92% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Von Willebrand disease, von Willebrand disease 3, von Willebrand disease 2, Von Willebrand disease type 1, von Willebrand disease type 2B, Von Willebrand disease type 2, von Willebrand disease 1, von Willebrand disease (hereditary or acquired), hereditary von Willebrand disease, von Willebrand disease type 2A, von Willebrand disease type 2M, von Willebrand disease type 2N.

Protein structure and variant hotspots

Protein features: 15 domains; 26 post-translational modification sites.
Structural context: 2,279 variants have structural context.
PTM context: 41 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable VWF variants

Examples include P3S, R5G, R5I, F6C, F6L, A7V, G8E, G8R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

VWF analysis run — VWF (3,766 variants) — completed 2026-08-19