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.




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