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VWF c.4735G>C ;(p.G1579R)
Variant ID: 12-6127849-C-G
NM_000552.3(
VWF
):c.4735G>C;(p.G1579R)
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:
Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.
Research And Practice In Thrombosis And Haemostasis
Vangenechten, Inge I; Gadisseur, Alain A
Publication Date: 2020-08
Variant appearance in text: VWF: Gly1579Arg
PubMed Link:
32864553
Variant Present in the following documents:
RTH2-4-1024-s004.xlsx, sheet 1
View BVdb publication page
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10
Variant appearance in text: VWF: G1579R
PubMed Link:
22431572
Variant Present in the following documents:
Main text
View BVdb publication page
Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Qing Q; Zhou, Yan-Feng YF; Zhang, Cheng-Zhong CZ; Zhang, Xiaohui X; Lu, Chafen C; Springer, Timothy A TA
Publication Date: 2009-06-09
Variant appearance in text: VWF: G1579R
PubMed Link:
19470641
Variant Present in the following documents:
Main text
View BVdb publication page