VWF c.4841A>C ;(p.D1614A)

Variant ID: 12-6127743-T-G

NM_000552.3(VWF):c.4841A>C;(p.D1614A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Crystal structure and substrate-induced activation of ADAMTS13.

Nature Communications
Petri, Anastasis A; Kim, Hyo Jung HJ; Xu, Yaoxian Y; de Groot, Rens R; Li, Chan C; Vandenbulcke, Aline A; Vanhoorelbeke, Karen K; Emsley, Jonas J; Crawley, James T B JTB
Publication Date: 2019-08-22

Variant appearance in text: VWF: D1614A
PubMed Link: 31439947
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11474.pdf
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: D1614A
PubMed Link: 21705658
Variant Present in the following documents:
  • Main text
View BVdb publication page