von Willebrand factor
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Bleeding and platelet disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalInherited bleeding disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalvon Willebrand disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalVon 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
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
von Willebrand factor
Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma
VWF · P04275-2isoform
No predicted structure exists for the canonical P04275 sequence; metrics below describe this isoform.
Mean pLDDT
75.5/ 100
Confident
351 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
