VWF c.4582A>G ;(p.M1528V)

Variant ID: 12-6128002-T-C

NM_000552.3(VWF):c.4582A>G;(p.M1528V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: M1528V
PubMed Link: 29186156
Variant Present in the following documents:
  • Main text
  • pone.0188405.pdf
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: M1528V
PubMed Link: 24558203
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mechanisms of disease-causing missense mutations.

Journal Of Molecular Biology
Stefl, Shannon S; Nishi, Hafumi H; Petukh, Marharyta M; Panchenko, Anna R AR; Alexov, Emil E
Publication Date: 2013-11-01

Variant appearance in text: VWF: M1528V
PubMed Link: 23871686
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: M1528V
PubMed Link: 23322777
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: M1528V
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page