VWF c.1897T>C ;(p.C633R)

Variant ID: 12-6166071-A-G

NM_000552.3(VWF):c.1897T>C;(p.C633R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A transcriptome analysis of basal and stimulated VWF release from endothelial cells derived from type 1 VWD patients.

Blood Advances
Kloosterman, Robbie R; Zago-Schmitt, Matteo M; Grabell, Julie J; Thibeault, Lisa Ann LA; Lima, Patricia D A PDA; Bowman, Mackenzie L ML; Tyryshkin, Kathrin K; Hindmarch, Charles C T CCT; Renwick, Neil N; James, Paula D PD
Publication Date: 2022-09-19

Variant appearance in text: VWF: 1897T>C; Cys633Arg
PubMed Link: 36121439
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients.

Blood Coagulation & Fibrinolysis : An International Journal In Haemostasis And Thrombosis
Selvam, Soundarya N SN; Casey, Lara J LJ; Bowman, Mackenzie L ML; Hawke, Lindsey G LG; Longmore, Avery J AJ; Mewburn, Jeffrey J; Ormiston, Mark L ML; Archer, Stephen L SL; Maurice, Donald H DH; James, Paula P
Publication Date: 2017-10

Variant appearance in text: VWF: 1897T>C; Cys633Arg
PubMed Link: 28362648
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth
Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,
Publication Date: 2013-03

Variant appearance in text: VWF: 1897T>C; Cys633Arg
PubMed Link: 23311757
Variant Present in the following documents:
  • Main text
View BVdb publication page