VWF c.3814del ;(p.C1272Afs*25)

Variant ID: 12-6128770-CA-C

NM_000552.3(VWF):c.3814del;(p.C1272Afs*25)

This variant was identified in 1 publication

View GRCh38 version.



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

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: 3814delT
PubMed Link: 34838051
Variant Present in the following documents:
  • Main text
  • 12959_2021_Article_348.pdf
View BVdb publication page