VWF c.8262T>G ;(p.C2754W)

Variant ID: 12-6058361-A-C

NM_000552.3(VWF):c.8262T>G;(p.C2754W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The disulfide bond Cys2724-Cys2774 in the C-terminal cystine knot domain of von Willebrand factor is critical for its dimerization and secretion.

Thrombosis Journal
Zhang, Yuxin Y; Chen, Fengwu F; Yang, Aizhen A; Wang, Xiaoying X; Han, Yue Y; Wu, Depei D; Wu, Yi Y; Zhang, Jingyu J
Publication Date: 2021-11-27

Variant appearance in text: VWF: C2754W
PubMed Link: 34838051
Variant Present in the following documents:
  • Main text
  • 12959_2021_Article_348.pdf
View BVdb publication page



Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor.

Blood
Zhou, Yan-Feng YF; Springer, Timothy A TA
Publication Date: 2014-03-20

Variant appearance in text: VWF: C2754W
PubMed Link: 24394662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.

Haematologica
Wang, Jiong-Wei JW; Groeneveld, Dafna J DJ; Cosemans, Guy G; Dirven, Richard J RJ; Valentijn, Karine M KM; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Publication Date: 2012-06

Variant appearance in text: VWF: Cys2754Trp
PubMed Link: 22207689
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.

The Journal Of Biological Chemistry
Wang, Jiong-Wei JW; Valentijn, Karine M KM; de Boer, Hetty C HC; Dirven, Richard J RJ; van Zonneveld, Anton Jan AJ; Koster, Abraham J AJ; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Publication Date: 2011-07-08

Variant appearance in text: VWF: C2754W
PubMed Link: 21596755
Variant Present in the following documents:
  • Main text
View BVdb publication page