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VWF c.5005T>G ;(p.C1669G)
Variant ID: 12-6127579-A-C
NM_000552.3(
VWF
):c.5005T>G;(p.C1669G)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
von Willebrand factor self-association is regulated by the shear-dependent unfolding of the A2 domain.
Blood Advances
Zhang, Changjie C; Kelkar, Anju A; Neelamegham, Sriram S
Publication Date: 2019-04-09
Variant appearance in text: VWF: C1669G
PubMed Link:
30936056
Variant Present in the following documents:
Main text
View BVdb publication page
Role of calcium in regulating the intra- and extracellular cleavage of von Willebrand factor by the protease ADAMTS13.
Blood Advances
Gogia, Shobhit S; Kelkar, Anju A; Zhang, Changjie C; Dayananda, Kannayakanahalli M KM; Neelamegham, Sriram S
Publication Date: 2017-10-24
Variant appearance in text: VWF: C1669G
PubMed Link:
29296853
Variant Present in the following documents:
Main text
View BVdb publication page
The importance of vicinal cysteines, C1669 and C1670, for von Willebrand factor A2 domain function.
Blood
Luken, Brenda M BM; Winn, Luke Y N LY; Emsley, Jonas J; Lane, David A DA; Crawley, James T B JT
Publication Date: 2010-06-10
Variant appearance in text: VWF: C1669G
PubMed Link:
20354169
Variant Present in the following documents:
Main text
View BVdb publication page