VWF c.4804_4805delinsGC ;(p.N1602A)

Variant ID: 12-6127779-TT-GC

NM_000552.3(VWF):c.4804_4805delinsGC;(p.N1602A)

This variant was identified in 7 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: N1602A
PubMed Link: 35618814
Variant Present in the following documents:
  • 42003_2022_3445_MOESM3_ESM.xlsx, sheet 1
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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One
Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA
Publication Date: 2017

Variant appearance in text: VWF: N1602A
PubMed Link: 29186156
Variant Present in the following documents:
  • Main text
  • pone.0188405.pdf
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The role of the ADAMTS13 cysteine-rich domain in VWF binding and proteolysis.

Blood
de Groot, Rens R; Lane, David A DA; Crawley, James T B JT
Publication Date: 2015-03-19

Variant appearance in text: VWF: N1602A
PubMed Link: 25564400
Variant Present in the following documents:
  • Main text
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: N1602A
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: N1602A
PubMed Link: 23322777
Variant Present in the following documents:
  • Main text
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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: N1602A
PubMed Link: 21750539
Variant Present in the following documents:
  • Main text
  • ncomms1385.pdf
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Mechanism of von Willebrand factor scissile bond cleavage by a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13).

Proceedings Of The National Academy Of Sciences Of The United States Of America
Xiang, Yaozu Y; de Groot, Rens R; Crawley, James T B JT; Lane, David A DA
Publication Date: 2011-07-12

Variant appearance in text: VWF: N1602A
PubMed Link: 21705658
Variant Present in the following documents:
  • Main text
View BVdb publication page