Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1272G
Back to variants list

VWF

NM_000552.5:p.C1272G

Associated Papers

Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

Interlandi G et al.

The Journal of Biological Chemistry, 2017

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.

Fidalgo T et al.

Thrombosis and Haemostasis, 2016

De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.

Shen MC et al.

Thrombosis Journal, 2016

The spectrum of mutations in Southern Spanish patients with von Willebrand disease.

Álvarez-Laderas I et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

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

Tischer A et al.

Proteins, 2014

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

Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Torres R et al.

Clinics in Laboratory Medicine, 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

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

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

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.

Rendal E et al.

Annals of Hematology, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."