Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1597Q
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VWF

NM_000552.5:p.R1597Q

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

Variant p.Tyr1584Cys: a frequent von Willebrand factor variant in search of von Willebrand disease.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2024

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

Seidizadeh O et al.

Blood Advances, 2024

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

Seidizadeh O et al.

Blood Advances, 2022

Genetic variants of VWF gene in type 2 von Willebrand disease.

Freitas SDS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Standardization and comparison of nonautomated assays to measure the collagen binding activity of von Willebrand factor.

Oliveira LMM et al.

International Journal of Laboratory Hematology, 2018

Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.

Nummi V et al.

International Journal of Laboratory Hematology, 2018

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Pérez-Rodríguez A et al.

Plos One, 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

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

Comparison of von Willebrand factor (VWF) activity levels determined by HemosIL AcuStar assay and HemosIL LIA assay with ristocetin cofactor assay by aggregometry.

Sagheer S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

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

Xu AJ et al.

The Journal of Biological Chemistry, 2013

The pathophysiology of von Willebrand disease: therapeutic implications.

Schneppenheim R

Thrombosis Research, 2011

Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

Gézsi A et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

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

ADAMTS13 substrate recognition of von Willebrand factor A2 domain.

Zanardelli S et al.

The Journal of Biological Chemistry, 2006

Type 2 A (group II) von Willebrand disease mutations increase the susceptibility of VWF to ADAMTS-13.

Tsai HM

Journal of Thrombosis and Haemostasis : Jth, 2004

Clinical diagnosis of von Willebrand disease.

Federici AB

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

Increased susceptibility of von Willebrand factor to proteolysis by ADAMTS13: should the multimer profile be normal or type 2A?

Bowen DJ

Blood, 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

A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease.

Hagiwara T et al.

Thrombosis and Haemostasis, 1996

[Prevention of new cases of the disease in families of hemophilia patients in Moscow using a genetic register].

Pliushch OP et al.

Gematologiia I Transfuziologiia, 0

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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."