VWF c.4382C>A ;(p.A1461D)

Variant ID: 12-6128202-G-T

NM_000552.3(VWF):c.4382C>A;(p.A1461D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

The Journal Of Biological Chemistry
Interlandi, Gianluca G; Yakovenko, Olga O; Tu, An-Yue AY; Harris, Jeff J; Le, Jennie J; Chen, Junmei J; López, José A JA; Thomas, Wendy E WE
Publication Date: 2017-11-10

Variant appearance in text: VWF: A1461D
PubMed Link: 28924049
Variant Present in the following documents:
  • Main text
View BVdb publication page



A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.

Journal Of Thrombosis And Haemostasis : Jth
Deng, W W; Wang, Y Y; Druzak, S A SA; Healey, J F JF; Syed, A K AK; Lollar, P P; Li, R R
Publication Date: 2017-09

Variant appearance in text: VWF: A1461D
PubMed Link: 28692141
Variant Present in the following documents:
  • Main text
View BVdb publication page