VWF c.4685T>C ;(p.L1562P)

Variant ID: 12-6127899-A-G

NM_000552.3(VWF):c.4685T>C;(p.L1562P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One
Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA
Publication Date: 2017

Variant appearance in text: VWF: L1562P
PubMed Link: 29186156
Variant Present in the following documents:
  • Main text
  • pone.0188405.pdf
View BVdb publication page



Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Plos One
Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P
Publication Date: 2016

Variant appearance in text: VWF: L1562P
PubMed Link: 27532107
Variant Present in the following documents:
  • Main text
  • pone.0161310.pdf
View BVdb publication page



Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Qing Q; Zhou, Yan-Feng YF; Zhang, Cheng-Zhong CZ; Zhang, Xiaohui X; Lu, Chafen C; Springer, Timothy A TA
Publication Date: 2009-06-09

Variant appearance in text: VWF: L1562P
PubMed Link: 19470641
Variant Present in the following documents:
  • Main text
View BVdb publication page