VWF

Chr 12

von Willebrand factor

Also known as: F8VWF, VWD

NCBI Gene: 7450 ENSG00000110799 UniProt: P04275

This gene encodes von Willebrand factor, a glycoprotein that promotes platelet adhesion at sites of vascular injury and serves as a chaperone for coagulation factor VIII. Mutations cause von Willebrand disease, the most common inherited bleeding disorder, with subtypes including type 1 (mild bleeding), type 2 variants (2A, 2B, 2M, 2N with specific functional defects), and type 3 (severe bleeding with absence of von Willebrand factor). The gene shows high tolerance to loss-of-function variants and inheritance can be autosomal dominant or autosomal recessive depending on the subtype.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtvon Willebrand disease 1

UniProtvon Willebrand disease 2

UniProtvon Willebrand disease 3

Clinical highlights

Gene-disease validity (ClinGen)

hereditary von Willebrand disease · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Active trials

894

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.59

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — VWF

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.59LOEUF

pLI 0.000

Z-score 5.54

OE 0.48 (0.39–0.59)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.99Z-score

OE missense 0.93 (0.89–0.97)

1491 obs / 1602.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.39–0.59)

0≤0.351.4

Missense OE?0.93 (0.89–0.97)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 64 / 133.0Missense obs/exp: 1491 / 1602.5Syn Z: -1.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VWF · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

📖

GeneReview available — VWF

Authoritative clinical overview · NCBI Bookshelf · Recommended first read

Open GeneReview ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Thrombotic Thrombocytopenic Purpura (TTP)

A Study in Children and, Adults With Congenital Thrombotic Thrombocytopenic Purpura (cTTP) Treated With Adzynma

RECRUITING

NCT07353099TakedaStarted 2026-05-26

No Intervention

Coronary Artery DiseasePercutaneous Coronary InterventionAcute Coronary Syndromes

Study of the Long-term Effects of P2Y12 Inhibitor Monotherapy and Coagulation Markers After Percutaneous Coronary Angioplasty.

RECRUITING

NCT07582835Phase PHASE3Cardiocentro TicinoStarted 2026-04-20

ClopidogrelTicagrelorPrasugrel

Healthy Population

Italian Digital Primary Cardiovascular Prevention Study

ACTIVE NOT RECRUITING

NCT05339841Phase NACentro Cardiologico MonzinoStarted 2022-06-10

Mobile health application

Thrombotic Thrombocytopenic Purpura (TTP)

A Study to Learn More About the Treatment of People With Congenital Thrombotic Thrombocytopenic Purpura (cTTP) Who Received Recombinant ADAMTS13 (rADAMTS13) as Part of the Early Access Program

NOT YET RECRUITING

NCT07429942TakedaStarted 2026-09-10

No Intervention

Thrombotic Thrombocytopenic PurpuraCongenital Thrombotic Thrombocytopenic PurpuraFamilial Thrombotic Thrombocytopenic Purpura

Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)

RECRUITING

NCT01257269Insel Gruppe AG, University Hospital BernStarted 2006-10

Observation

Nirogacestat in Patients With Kaposi Sarcoma

NOT YET RECRUITING

NCT07539454Phase PHASE2AIDS Malignancy ConsortiumStarted 2026-09-17

Biospecimen CollectionChest RadiographyComputed Tomography