VWF c.4816_4817delinsGC ;(p.M1606A)

Variant ID: 12-6127767-AT-GC

NM_000552.3(VWF):c.4816_4817delinsGC;(p.M1606A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.

Mediterranean Journal Of Hematology And Infectious Diseases
Casari, Caterina C; Lenting, Peter J PJ; Christophe, Olivier D OD; Denis, Cécile V CV
Publication Date: 2013

Variant appearance in text: VWF: M1606A
PubMed Link: 23936618
Variant Present in the following documents:
  • Main text
  • mjhid-5-1-e2013047.pdf
View BVdb publication page



Unraveling the scissile bond: how ADAMTS13 recognizes and cleaves von Willebrand factor.

Blood
Crawley, James T B JT; de Groot, Rens R; Xiang, Yaozu Y; Luken, Brenda M BM; Lane, David A DA
Publication Date: 2011-09-22

Variant appearance in text: VWF: Met1606Ala
PubMed Link: 21715306
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: M1606A
PubMed Link: 21705658
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity.

Blood
de Groot, Rens R; Lane, David A DA; Crawley, James T B JT
Publication Date: 2010-10-21

Variant appearance in text: VWF: M1606A
PubMed Link: 20647566
Variant Present in the following documents:
  • Main text
View BVdb publication page