VWF c.3940G>T ;(p.V1314F)

Variant ID: 12-6128644-C-A

NM_000552.3(VWF):c.3940G>T;(p.V1314F)

This variant was identified in 3 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: V1314F
PubMed Link: 33560395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: VWF: V1314F
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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

Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06

Variant appearance in text: VWF: V1314F
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page