VWF c.4969C>A ;(p.L1657I)

Variant ID: 12-6127615-G-T

NM_000552.3(VWF):c.4969C>A;(p.L1657I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Long-ranged Protein-glycan Interactions Stabilize von Willebrand Factor A2 Domain from Mechanical Unfolding.

Scientific Reports
Dong, Chuqiao C; Lee, Jumin J; Kim, Seonghoon S; Lai, Whitney W; Webb, Edmund B EB; Oztekin, Alparslan A; Zhang, X Frank XF; Im, Wonpil W
Publication Date: 2018-10-30

Variant appearance in text: VWF: L1657I
PubMed Link: 30375453
Variant Present in the following documents:
  • 41598_2018_Article_34374.pdf
View BVdb publication page



Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis
Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC
Publication Date: 2013-08

Variant appearance in text: VWF: L1657I
PubMed Link: 23702511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments.

Plos One
Interlandi, Gianluca G; Ling, Minhua M; Tu, An Yue AY; Chung, Dominic W DW; Thomas, Wendy E WE
Publication Date: 2012

Variant appearance in text: VWF: L1657I
PubMed Link: 23110044
Variant Present in the following documents:
  • Main text
  • pone.0045207.pdf
View BVdb publication page