PNPLA5 c.203G>T ;(p.C68F)

Variant ID: 22-44287165-C-A

NM_138814.3(PNPLA5):c.203G>T;(p.C68F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules
Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E
Publication Date: 2019-11-29

Variant appearance in text: PNPLA5: Cys68Phe; rs199891914
PubMed Link: 31795497
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00807.pdf
View BVdb publication page



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: PNPLA5: 203G>T; C68F
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page