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VWF c.4382C>A ;(p.A1461D)
Variant ID: 12-6128202-G-T
NM_000552.3(
VWF
):c.4382C>A;(p.A1461D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.
The Journal Of Biological Chemistry
Interlandi, Gianluca G; Yakovenko, Olga O; Tu, An-Yue AY; Harris, Jeff J; Le, Jennie J; Chen, Junmei J; López, José A JA; Thomas, Wendy E WE
Publication Date: 2017-11-10
Variant appearance in text: VWF: A1461D
PubMed Link:
28924049
Variant Present in the following documents:
Main text
View BVdb publication page
A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.
Journal Of Thrombosis And Haemostasis : Jth
Deng, W W; Wang, Y Y; Druzak, S A SA; Healey, J F JF; Syed, A K AK; Lollar, P P; Li, R R
Publication Date: 2017-09
Variant appearance in text: VWF: A1461D
PubMed Link:
28692141
Variant Present in the following documents:
Main text
View BVdb publication page