Bibliome.ai browser hg19
Search
About
Stats
FAQ
VWF c.3814T>G ;(p.C1272G)
Variant ID: 12-6128770-A-C
NM_000552.3(
VWF
):c.3814T>G;(p.C1272G)
This variant was identified in 4 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: C1272G
PubMed Link:
28924049
Variant Present in the following documents:
Main text
View BVdb publication page
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.
Thrombosis Journal
Shen, Ming-Ching MC; Chen, Ming M; Ma, Gwo-Chin GC; Chang, Shun-Ping SP; Lin, Ching-Yeh CY; Lin, Bo-Do BD; Hsieh, Han-Ni HN
Publication Date: 2016
Variant appearance in text: VWF: Cys1272Gly
PubMed Link:
27766062
Variant Present in the following documents:
Main text
12959_2016_Article_92.pdf
View BVdb publication page
A molten globule intermediate of the von Willebrand factor A1 domain firmly tethers platelets under shear flow.
Proteins
Tischer, Alexander A; Madde, Pranathi P; Blancas-Mejia, Luis M LM; Auton, Matthew M
Publication Date: 2014-05
Variant appearance in text: VWF: C1272G
PubMed Link:
24265179
Variant Present in the following documents:
Main text
View BVdb publication page
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06
Variant appearance in text: VWF: C1272G
PubMed Link:
19665675
Variant Present in the following documents:
Main text
View BVdb publication page