VWF von Willebrand factor
Gene ID: 7450, updated on 30-Apr-2024Gene type: protein coding
Also known as: VWD; F8VWF
- See all available tests in GTR for this gene
- Go to complete Gene record for VWF
- Go to Variation Viewer for VWF variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hereditary von Willebrand disease MedGen: C5703318GeneReviews: von Willebrand Disease | See labs |
| Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| von Willebrand disease type 1 | See labs |
| von Willebrand disease type 2 | See labs |
| von Willebrand disease type 3 | See labs |
Genomic context
- Location:
- 12p13.31
- Sequence:
- Chromosome: 12; NC_000012.12 (5948877..6124670, complement)
- Total number of exons:
- 53
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VWF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EAHAD Coagulation Factor Variant Databases von Willebrand factor (VWF)
- EAHAD von Willebrand Factor Database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.