VWF c.4841A>G ;(p.D1614G)

Variant ID: 12-6127743-T-C

NM_000552.3(VWF):c.4841A>G;(p.D1614G)

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: D1614G
PubMed Link: 29186156
Variant Present in the following documents:
  • Main text
  • pone.0188405.pdf
View BVdb publication page



Leukocyte proteases cleave von Willebrand factor at or near the ADAMTS13 cleavage site.

Blood
Raife, Thomas J TJ; Cao, Wenjing W; Atkinson, Bonnie S BS; Bedell, Bruce B; Montgomery, Robert R RR; Lentz, Steven R SR; Johnson, George F GF; Zheng, X Long XL
Publication Date: 2009-08-20

Variant appearance in text: VWF: D1614G
PubMed Link: 19541819
Variant Present in the following documents:
  • Main text
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: D1614G
PubMed Link: 19470641
Variant Present in the following documents:
  • Main text
View BVdb publication page