Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G1631D
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VWF

NM_000552.5:p.G1631D

Associated Papers

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Seidizadeh O et al.

Haematologica, 2026

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

Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.

Seidizadeh O et al.

Blood Advances, 2024

Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.

Woods AI et al.

American Journal of Medical Genetics. Part A, 2024

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Seidizadeh O et al.

Blood Advances, 2022

Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.

Woods AI et al.

Seminars in Thrombosis and Hemostasis, 2021

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

Von Willebrand factor processing.

Brehm MA

Hamostaseologie, 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

Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.

Stufano F et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Weibel-Palade bodies: a window to von Willebrand disease.

Valentijn KM et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Jacobi PM et al.

Blood, 2012

Different bleeding risk in type 2A and 2M von Willebrand disease: a 2-year prospective study in 107 patients.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

Shear-induced unfolding activates von Willebrand factor A2 domain for proteolysis.

Baldauf C et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

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

Hassenpflug WA et al.

Blood, 2006

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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."