VWF c.4810G>T ;(p.V1604F)

Variant ID: 12-6127774-C-A

NM_000552.3(VWF):c.4810G>T;(p.V1604F)

This variant was identified in 3 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: V1604F
PubMed Link: 29186156
Variant Present in the following documents:
  • Main text
  • pone.0188405.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: VWF: V1604F
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Qing Q; Zhou, Yan-Feng YF; Zhang, Cheng-Zhong CZ; Zhang, Xiaohui X; Lu, Chafen C; Springer, Timothy A TA
Publication Date: 2009-06-09

Variant appearance in text: VWF: V1604F
PubMed Link: 19470641
Variant Present in the following documents:
  • Main text
View BVdb publication page