Gene: VWF

Alternate names for this Gene: F8VWF|VWD

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: von Willebrand factor

Type of Gene: protein-coding

rs144072210 in VWF gene and Abnormality of coagulation PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs61748477 in VWF gene and Bleeding tendency PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs216311 in VWF gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1063856 in VWF gene and Coagulation factor measurement PMID 23267103 2013 Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

rs1063856 in VWF gene and Factor VII measurement PMID 23267103 2013 Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

rs1063856 in VWF gene and Factor VIII measurement PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

rs1555198839 in VWF gene and Multiple congenital anomalies PMID 16634745 2006 A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD).

PMID 26288715 2015 Current controversies in the diagnosis and management of von Willebrand disease.

PMID 16862529 2006 Genetic testing for von Willebrand disease: the Canadian experience.

PMID 3495304 1987 The effect of ABO blood group on the diagnosis of von Willebrand disease.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 22197721 2012 VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

PMID 16985174 2007 Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

PMID 23401897 1999 Diagnosis and management of von Willebrand disease.

PMID 16889557 2006 Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.

PMID 19372260 2009 A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.

PMID 24319188 2013 von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.

PMID 11686102 2001 Congenital von Willebrand disease type I: definition, phenotypes, clinical and laboratory assessment.

PMID 17190853 2007 The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

rs216311 in VWF gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs9634155 in VWF gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1558519 in VWF gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs121964895 in VWF gene and von Willebrand Disease PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 23426949 2013 We examined BOECs derived from a single subject heterozygous for a type 2N mutation (p.Arg854Gln) and from 4 patients with type 1 VWD who were, respectively, heterozygous for p.Ser1285Pro, p.Leu1307Pro, p.Tyr1584Cys, and p.Cys2693Tyr.

PMID 8500791 1993 Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.

PMID 1832934 1991 Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.

PMID 1581215 1992 A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.

PMID 22875612 2013 A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

PMID 21371195 2011 Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis.

PMID 16985174 2007 Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

PMID 20409624 2010 The genetic basis of von Willebrand disease.

PMID 18712522 2009 Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA.

PMID 23636243 2013 Compromised shear-dependent cleavage of type 2N von Willebrand factor variants by ADAMTS13 in the presence of factor VIII.

PMID 1918030 1991 Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.

PMID 15461624 2004 Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.

PMID 22197721 2012 VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

PMID 1906877 1991 Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction.

PMID 16953269 2006 Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.

PMID 8486782 1993 von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

PMID 24675615 2014 Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

PMID 18805962 2009 Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.

PMID 18485763 2008 Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

PMID 21534937 2011 Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.

PMID 11325649 2001 The amino acid change C1227R, predicted by the mutation 4135C-->T, was identified as a compound heterozygote in a patient with moderately severe type 1 vWD.

PMID 20305138 2010 Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia.

PMID 26456374 2015 Higher and lower active circulating VWF levels: different facets of von Willebrand disease.

PMID 23110044 2012 Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments.

PMID 17681836 2007 Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.

PMID 16221672 2006 ADAMTS13 substrate recognition of von Willebrand factor A2 domain.

PMID 16322474 2006 We used recombinant human ADAMTS13 (rhuADAMTS13) to digest recombinant full-length VWF and a VWF fragment spanning the VWF A1 through A3 domains, harboring 13 different VWD type 2A mutations (C1272S, G1505E, G1505R, S1506L, M1528V, R1569del, R1597W, V1607D, G1609R, I1628T, G1629E, G1631D, and E1638K).

PMID 24712919 2014 Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.

PMID 22102201 2011 Diagnosis and management of von Willebrand disease in a single institution of Argentina.

PMID 1673047 1991 Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).

PMID 17190853 2007 The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

PMID 19566550 2009 Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.

PMID 21393328 2011 An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.

PMID 27532107 2016 Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

PMID 23335371 2013 Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein.

PMID 26986123 2016 A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

PMID 18449422 2008 Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.

rs267607364 in VWF gene and von Willebrand Disease, Recessive Form PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs61748511 in VWF gene and von Willebrand Disease, Type 1 PMID 11698279 2001 Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.

PMID 10887119 2000 A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.

PMID 11698279 2001 Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.

rs121964894 in VWF gene and von Willebrand Disease, Type 2 PMID 2010538 1991 Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.

PMID 1673047 1991 Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).

PMID 1832934 1991 Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.

PMID 1409710 1992 von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.

PMID 1419803 1992 Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.

PMID 1672694 1991 The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.

PMID 1906179 1991 "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A."

PMID 8011991 1994 Investigation of type IIC von Willebrand disease.

PMID 8547152 1995 Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.

PMID 1419804 1992 Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.

PMID 8123843 1994 Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.

PMID 7620154 1995 Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.

PMID 1729889 1992 Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

PMID 8348943 1993 Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.

PMID 7789955 1995 Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.

PMID 8435341 1993 Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.

PMID 8486782 1993 von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

PMID 21592258 2012 C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.

PMID 8338947 1993 Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.

PMID 8622978 1996 Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs61750615 in VWF gene and von Willebrand Disease, Type 3 PMID 8088787 1994 Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.

PMID 7989040 1994 Genetic heterogeneity of severe von Willebrand disease type III in the German population.

PMID 10887119 2000 A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.

rs1063857 in VWF gene and von Willebrand's factor (lab test) PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

PMID 26486471 2016 Genome-wide association studies identify genetic loci for low von Willebrand factor levels.