LRRK2 c.5065G>T ;(p.E1689*)

Variant ID: 12-40714885-G-T

NM_198578.3(LRRK2):c.5065G>T;(p.E1689*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: LRRK2: E1689*
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: LRRK2: E1689*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Jama Neurology
Blauwendraat, Cornelis C; Reed, Xylena X; Kia, Demis A DA; Gan-Or, Ziv Z; Lesage, Suzanne S; Pihlstrøm, Lasse L; Guerreiro, Rita R; Gibbs, J Raphael JR; Sabir, Marya M; Ahmed, Sarah S; Ding, Jinhui J; Alcalay, Roy N RN; Hassin-Baer, Sharon S; Pittman, Alan M AM; Brooks, Janet J; Edsall, Connor C; Hernandez, Dena G DG; Chung, Sun Ju SJ; Goldwurm, Stefano S; Toft, Mathias M; Schulte, Claudia C; Bras, Jose J; Wood, Nicholas W NW; Brice, Alexis A; Morris, Huw R HR; Scholz, Sonja W SW; Nalls, Mike A MA; Singleton, Andrew B AB; Cookson, Mark R MR; ,
Publication Date: 2018-11-01

Variant appearance in text: LRRK2: E1689X
PubMed Link: 30039155
Variant Present in the following documents:
  • Main text
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: LRRK2: 5065G>T; E1689*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page