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VWF c.4787A>C ;(p.D1596A)
Variant ID: 12-6127797-T-G
NM_000552.3(
VWF
):c.4787A>C;(p.D1596A)
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:
PepNN: a deep attention model for the identification of peptide binding sites.
Communications Biology
Abdin, Osama O; Nim, Satra S; Wen, Han H; Kim, Philip M PM
Publication Date: 2022-05-26
Variant appearance in text: VWF: D1596A
PubMed Link:
35618814
Variant Present in the following documents:
42003_2022_3445_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Control of VWF A2 domain stability and ADAMTS13 access to the scissile bond of full-length VWF.
Blood
Lynch, Christopher J CJ; Lane, David A DA; Luken, Brenda M BM
Publication Date: 2014-04-17
Variant appearance in text: VWF: D1596A
PubMed Link:
24558203
Variant Present in the following documents:
Main text
View BVdb publication page
Mechanisms by which von Willebrand disease mutations destabilize the A2 domain.
The Journal Of Biological Chemistry
Xu, Amy J AJ; Springer, Timothy A TA
Publication Date: 2013-03-01
Variant appearance in text: VWF: D1596A
PubMed Link:
23322777
Variant Present in the following documents:
Main text
View BVdb publication page
Calcium modulates force sensing by the von Willebrand factor A2 domain.
Nature Communications
Jakobi, Arjen J AJ; Mashaghi, Alireza A; Tans, Sander J SJ; Huizinga, Eric G EG
Publication Date: 2011-07-12
Variant appearance in text: VWF: D1596A
PubMed Link:
21750539
Variant Present in the following documents:
Main text
ncomms1385.pdf
View BVdb publication page