Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.E1638K
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VWF

NM_000552.5:p.E1638K

Associated Papers

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

Structural Analysis of von Willebrand Factor.

Brehm MA

Hamostaseologie, 2026

Application of genetic testing for the diagnosis of von Willebrand disease.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.

Mobayen G et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Vangenechten I et al.

Research and Practice in Thrombosis and Haemostasis, 2020

32864553 (PubMed )
Supplement: RTH2-4-1024-s004.xlsx › Blad2

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

Long-ranged Protein-glycan Interactions Stabilize von Willebrand Factor A2 Domain from Mechanical Unfolding.

Dong C et al.

Scientific Reports, 2018

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism.

Aponte-Santamaría C et al.

Biophysical Journal, 2017

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Lynch CJ et al.

Plos One, 2017

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

Veyradier A et al.

Medicine, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Mechanisms by which von Willebrand disease mutations destabilize the A2 domain.

Xu AJ et al.

The Journal of Biological Chemistry, 2013

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

Interlandi G et al.

Plos One, 2012

ADAMTS13 cleavage efficiency is altered by mutagenic and, to a lesser extent, polymorphic sequence changes in the A1 and A2 domains of von Willebrand factor.

Pruss CM et al.

British Journal of Haematology, 2008

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

von Willebrand factor collagen binding assay with a commercial kit using type III collagen in von Willebrand disease type 2.

Veyradier A et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13.

Rayes J et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.

Hassenpflug WA et al.

Blood, 2006

ADAMTS13 substrate recognition of von Willebrand factor A2 domain.

Zanardelli S et al.

The Journal of Biological Chemistry, 2006

Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations.

O'Brien LA et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations.

Sutherland JJ et al.

Journal of Molecular Modeling, 2004

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.

Jenkins PV et al.

Blood, 1998

Molecular genetics of von Willebrand disease.

Ginsburg D et al.

Blood, 1992

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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."