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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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