VWF c.3816C>G ;(p.C1272W)

Variant ID: 12-6128768-G-C

NM_000552.3(VWF):c.3816C>G;(p.C1272W)

This variant was identified in 2 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: C1272W
PubMed Link: 27889474
Variant Present in the following documents:
  • Main text
View BVdb publication page