EGF c.2000A>T ;(p.E667V)

Variant ID: 4-110897338-A-T

NM_001963.4(EGF):c.2000A>T;(p.E667V)

This variant was identified in 2 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: EGF: 2000A>T; E667V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.

Cell
Pearce, Laura R LR; Atanassova, Neli N; Banton, Matthew C MC; Bottomley, Bill B; van der Klaauw, Agatha A AA; Revelli, Jean-Pierre JP; Hendricks, Audrey A; Keogh, Julia M JM; Henning, Elana E; Doree, Deon D; Jeter-Jones, Sabrina S; Garg, Sumedha S; Bochukova, Elena G EG; Bounds, Rebecca R; Ashford, Sofie S; Gayton, Emma E; Hindmarsh, Peter C PC; Shield, Julian P H JP; Crowne, Elizabeth E; Barford, David D; Wareham, Nick J NJ; , ; O'Rahilly, Stephen S; Murphy, Michael P MP; Powell, David R DR; Barroso, Ines I; Farooqi, I Sadaf IS
Publication Date: 2013-11-07

Variant appearance in text: EGF: E667V
PubMed Link: 24209692
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.pdf
View BVdb publication page