VWF c.3941T>A ;(p.V1314D)

Variant ID: 12-6128643-A-T

NM_000552.3(VWF):c.3941T>A;(p.V1314D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular coevolution of coagulation factor VIII and von Willebrand factor.

Blood Advances
Zakas, Philip M PM; Coyle, Christopher W CW; Brehm, Anja A; Bayer, Marion M; Solecka-Witulska, Barbara B; Radford, Caelan E CE; Brown, Christine C; Nesbitt, Kate K; Dwyer, Courtney C; Kannicht, Christoph C; Spencer, H Trent HT; Gaucher, Eric A EA; Doering, Christopher B CB; Lillicrap, David D
Publication Date: 2021-02-09

Variant appearance in text: VWF: V1314D
PubMed Link: 33560395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.

Journal Of Molecular Biology
Tischer, Alexander A; Brehm, Maria A MA; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Nelton, Katelynn J KJ; Leger, Rachel R RR; Obser, Tobias T; Martinez-Vargas, Marina M; Whitten, Steven T ST; Chen, Dong D; Pruthi, Rajiv K RK; Bergen, H Robert HR; Cruz, Miguel A MA; Schneppenheim, Reinhard R; Auton, Matthew M
Publication Date: 2020-01-17

Variant appearance in text: VWF: V1314D
PubMed Link: 31628947
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: V1314D
PubMed Link: 27889474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.

Biophysical Journal
Zimmermann, Michael T MT; Tischer, Alexander A; Whitten, Steven T ST; Auton, Matthew M
Publication Date: 2015-07-21

Variant appearance in text: VWF: V1314D
PubMed Link: 26200876
Variant Present in the following documents:
  • Main text
View BVdb publication page