Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.E787K
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VWF

NM_000552.5:p.E787K

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

Predicting the effects of single pathological mutations in hemophilia A and type 2N von Willebrand diseases using AlphaFold2-multimer and AlphaFold3.

Zhang Z et al.

The Journal of Pharmacology and Experimental Therapeutics, 2025

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Seidizadeh O et al.

Npj Genomic Medicine, 2023

37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf

Structural insights into blood coagulation factor VIII: Procoagulant complexes, membrane binding, and antibody inhibition.

Childers KC et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.

Shi Q et al.

Blood Advances, 2022

35015821 (PubMed )
Supplement: advancesADV2021006353-suppl1.pdf

Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.

Pérez-Rodríguez A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

D' domain region Arg782-Cys799 of von Willebrand factor contributes to factor VIII binding.

Przeradzka MA et al.

Haematologica, 2020

Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.

Rassoulzadegan M et al.

International Journal of Hematology, 2020

Evaluation of clinical severity in patients with type 2N von Willebrand disease using microchip-based flow-chamber system.

Nakajima Y et al.

International Journal of Hematology, 2020

Importance of the Force Field Choice in Capturing Functionally Relevant Dynamics in the von Willebrand Factor.

Kuzmanic A et al.

The Journal of Physical Chemistry Letters, 2019

The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Dong X et al.

Blood, 2019

Type 2N von Willebrand disease: Characterization and diagnostic difficulties.

Casonato A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

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

Casonato A et al.

Haematologica, 2013

von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.

Schneppenheim R et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

[Von Willebrand disease: diagnostic and treatment dilemmas].

Inbal A

Harefuah, 2010

Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.

Michiels JJ et al.

Acta Haematologica, 2009

von Willebrand disease update: diagnostic and treatment dilemmas.

Bolton-Maggs PH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006

New insight into the molecular basis of hemophilia A.

Oldenburg J et al.

International Journal of Hematology, 2006

Type 2N von Willebrand disease mutations in Brazilian individuals.

Simon D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2004

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.

Schneppenheim R et al.

Thrombosis and Haemostasis, 2004

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."