VWF c.5005T>G ;(p.C1669G)

Variant ID: 12-6127579-A-C

NM_000552.3(VWF):c.5005T>G;(p.C1669G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


von Willebrand factor self-association is regulated by the shear-dependent unfolding of the A2 domain.

Blood Advances
Zhang, Changjie C; Kelkar, Anju A; Neelamegham, Sriram S
Publication Date: 2019-04-09

Variant appearance in text: VWF: C1669G
PubMed Link: 30936056
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of calcium in regulating the intra- and extracellular cleavage of von Willebrand factor by the protease ADAMTS13.

Blood Advances
Gogia, Shobhit S; Kelkar, Anju A; Zhang, Changjie C; Dayananda, Kannayakanahalli M KM; Neelamegham, Sriram S
Publication Date: 2017-10-24

Variant appearance in text: VWF: C1669G
PubMed Link: 29296853
Variant Present in the following documents:
  • Main text
View BVdb publication page



The importance of vicinal cysteines, C1669 and C1670, for von Willebrand factor A2 domain function.

Blood
Luken, Brenda M BM; Winn, Luke Y N LY; Emsley, Jonas J; Lane, David A DA; Crawley, James T B JT
Publication Date: 2010-06-10

Variant appearance in text: VWF: C1669G
PubMed Link: 20354169
Variant Present in the following documents:
  • Main text
View BVdb publication page