VWF c.3702T>G ;(p.C1234W)

Variant ID: 12-6128882-A-C

NM_000552.3(VWF):c.3702T>G;(p.C1234W)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The Manifold Cellular Functions of von Willebrand Factor.

Cells
Mojzisch, Angelika A; Brehm, Maria A MA
Publication Date: 2021-09-08

Variant appearance in text: VWF: Cys1234Trp
PubMed Link: 34572000
Variant Present in the following documents:
  • Main text
  • cells-10-02351.pdf
View BVdb publication page



Von Willebrand Disease: From In Vivo to In Vitro Disease Models.

Hemasphere
de Boer, Suzan S; Eikenboom, Jeroen J
Publication Date: 2019-10

Variant appearance in text: VWF: C1234W
PubMed Link: 31942548
Variant Present in the following documents:
  • Main text
  • hs9-3-e297.pdf
View BVdb publication page



The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Berber, Ergül E
Publication Date: 2012-12

Variant appearance in text: VWF: C1234W
PubMed Link: 24385719
Variant Present in the following documents:
  • TJH-29-313.pdf
View BVdb publication page



Functional architecture of Weibel-Palade bodies.

Blood
Valentijn, Karine M KM; Sadler, J Evan JE; Valentijn, Jack A JA; Voorberg, Jan J; Eikenboom, Jeroen J
Publication Date: 2011-05-12

Variant appearance in text: VWF: Cys1234Trp
PubMed Link: 21266719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage.

Journal Of Thrombosis And Haemostasis : Jth
Haberichter, S L SL; Allmann, A M AM; Jozwiak, M A MA; Montgomery, R R RR; Gill, J C JC
Publication Date: 2009-04

Variant appearance in text: VWF: C1234W
PubMed Link: 19192112
Variant Present in the following documents:
  • Main text
View BVdb publication page