VWF c.4373G>A ;(p.C1458Y)

Variant ID: 12-6128211-C-T

NM_000552.3(VWF):c.4373G>A;(p.C1458Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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

Journal Of Molecular Biology
Tischer, Alexander A; Machha, Venkata R VR; Frontroth, Juan P JP; Brehm, Maria A MA; Obser, Tobias T; Schneppenheim, Reinhard R; Mayne, Leland L; Walter Englander, S S; Auton, Matthew M
Publication Date: 2017-07-07

Variant appearance in text:
PubMed Link: 28533135
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Journal Of Molecular Biology
Machha, Venkata R VR; Tischer, Alexander A; Moon-Tasson, Laurie L; Auton, Matthew M
Publication Date: 2017-01-06

Variant appearance in text: VWF: C1458Y
PubMed Link: 27889474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: VWF: 4373G>A; Cys1458Tyr
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



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

Medicine
Veyradier, Agnès A; Boisseau, Pierre P; Fressinaud, Edith E; Caron, Claudine C; Ternisien, Catherine C; Giraud, Mathilde M; Zawadzki, Christophe C; Trossaert, Marc M; Itzhar-Baïkian, Nathalie N; Dreyfus, Marie M; d'Oiron, Roseline R; Borel-Derlon, Annie A; Susen, Sophie S; Bezieau, Stéphane S; Denis, Cécile V CV; Goudemand, Jenny J; ,
Publication Date: 2016-03

Variant appearance in text: VWF: Cys1458Tyr
PubMed Link: 26986123
Variant Present in the following documents:
  • Main text
  • medi-95-e3038.pdf
View BVdb publication page