VWF c.4850A>G ;(p.K1617R)

Variant ID: 12-6127734-T-C

NM_000552.3(VWF):c.4850A>G;(p.K1617R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: VWF: 4850A>G; K1617R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Detection of Plasma Protease Activity Using Microsphere-Cytometry Assays with E. coli Derived Substrates: VWF Proteolysis by ADAMTS13.

Plos One
Gogia, Shobhit S; Lo, Chi Y CY; Neelamegham, Sriram S
Publication Date: 2015

Variant appearance in text: VWF: K1617R
PubMed Link: 25992814
Variant Present in the following documents:
  • Main text
  • pone.0126556.pdf
View BVdb publication page



An optimized fluorogenic ADAMTS13 assay with increased sensitivity for the investigation of patients with thrombotic thrombocytopenic purpura.

Journal Of Thrombosis And Haemostasis : Jth
Muia, J J; Gao, W W; Haberichter, S L SL; Dolatshahi, L L; Zhu, J J; Westfield, L A LA; Covill, S C SC; Friedman, K D KD; Sadler, J E JE
Publication Date: 2013-08

Variant appearance in text: VWF: K1617R
PubMed Link: 23773695
Variant Present in the following documents:
  • Main text
View BVdb publication page