LRRK2 c.5077C>T ;(p.R1693*)

Variant ID: 12-40714897-C-T

NM_198578.3(LRRK2):c.5077C>T;(p.R1693*)

This variant was identified in 5 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: R1693*; rs768668969
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: LRRK2: 5077C>T; Arg1693Ter; rs768668969
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM4_ESM.xlsx, sheet 3
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: R1693*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The effect of LRRK2 loss-of-function variants in humans.

Nature Medicine
Whiffin, Nicola N; Armean, Irina M IM; Kleinman, Aaron A; Marshall, Jamie L JL; Minikel, Eric V EV; Goodrich, Julia K JK; Quaife, Nicholas M NM; Cole, Joanne B JB; Wang, Qingbo Q; Karczewski, Konrad J KJ; Cummings, Beryl B BB; Francioli, Laurent L; Laricchia, Kristen K; Guan, Anna A; Alipanahi, Babak B; Morrison, Peter P; Baptista, Marco A S MAS; Merchant, Kalpana M KM; , ; , ; Ware, James S JS; Havulinna, Aki S AS; Iliadou, Bozenna B; Lee, Jung-Jin JJ; Nadkarni, Girish N GN; Whiteman, Cole C; , ; Daly, Mark M; Esko, Tõnu T; Hultman, Christina C; Loos, Ruth J F RJF; Milani, Lili L; Palotie, Aarno A; Pato, Carlos C; Pato, Michele M; Saleheen, Danish D; Sullivan, Patrick F PF; Alföldi, Jessica J; Cannon, Paul P; MacArthur, Daniel G DG
Publication Date: 2020-06

Variant appearance in text: LRRK2: Arg1693Ter
PubMed Link: 32461697
Variant Present in the following documents:
  • Main text
  • 41591_2020_Article_893.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: LRRK2: 5077C>T; R1693*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page