VWF c.4205A>C ;(p.Q1402P)

Variant ID: 12-6128379-T-G

NM_000552.3(VWF):c.4205A>C;(p.Q1402P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Crucial role for the VWF A1 domain in binding to type IV collagen.

Blood
Flood, Veronica H VH; Schlauderaff, Abraham C AC; Haberichter, Sandra L SL; Slobodianuk, Tricia L TL; Jacobi, Paula M PM; Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Gill, Joan Cox JC; Hoffmann, Raymond G RG; Montgomery, Robert R RR; ,
Publication Date: 2015-04-02

Variant appearance in text: VWF: Q1402P
PubMed Link: 25662333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Translational medicine advances in von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Lillicrap, D D
Publication Date: 2013-06

Variant appearance in text: VWF: Q1402P
PubMed Link: 23809112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Larsen, D M DM; Haberichter, S L SL; Gill, J C JC; Shapiro, A D AD; Flood, V H VH
Publication Date: 2013-07

Variant appearance in text: VWF: Q1402P
PubMed Link: 23496210
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular characterization of von Willebrand disease: good in parts.

British Journal Of Haematology
James, P D PD; Lillicrap, D D
Publication Date: 2013-04

Variant appearance in text: VWF: Q1402P
PubMed Link: 23406206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Bellissimo, D B DB; Friedman, K D KD; Haberichter, S L SL; Lentz, S R SR; Montgomery, R R RR
Publication Date: 2012-07

Variant appearance in text: VWF: Q1402P
PubMed Link: 22507569
Variant Present in the following documents:
  • Main text
View BVdb publication page