Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1272S
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VWF

NM_000552.5:p.C1272S

Associated Papers

Characterization of VWF gene conversions causing von Willebrand disease.

Ahmad F et al.

British Journal of Haematology, 2019

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

Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping.

Tischer A et al.

Journal of Molecular Biology, 2017

A molten globule intermediate of the von Willebrand factor A1 domain firmly tethers platelets under shear flow.

Tischer A et al.

Proteins, 2014

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

C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.

Woods AI et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

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

Baldauf C et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 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

von Willebrand disease R1374C: type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia).

Penas N et al.

American Journal of Hematology, 2005

C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.

Penas N et al.

American Journal of Hematology, 2004

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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."