TSC2 c.1816A>G ;(p.I606V)

Variant ID: 16-2120556-A-G

NM_000548.3(TSC2):c.1816A>G;(p.I606V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Jci Insight
Seidel, Philipp P; Rubarth, Anne A; Zodel, Kyra K; Peighambari, Asin A; Neumann, Felix F; Federkiel, Yannick Y; Huang, Hsin H; Hoefflin, Rouven R; Adlesic, Mojca M; Witt, Christian C; Hoffmann, David J DJ; Metzger, Patrick P; Lindemann, Ralph K RK; Zenke, Frank T FT; Schell, Christoph C; Boerries, Melanie M; von Elverfeldt, Dominik D; Reichardt, Wilfried W; Follo, Marie M; Albers, Joachim J; Frew, Ian J IJ
Publication Date: 2022-11-22

Variant appearance in text: TSC2: 1816A>G; I606V; rs371074761
PubMed Link: 36413415
Variant Present in the following documents:
  • jciinsight-7-156087-s060.xlsx, sheet 6
View BVdb publication page



Models of Renal Cell Carcinoma Used to Investigate Molecular Mechanisms and Develop New Therapeutics.

Frontiers In Oncology
Shapiro, Daniel D DD; Virumbrales-Muñoz, Maria M; Beebe, David J DJ; Abel, E Jason EJ
Publication Date: 2022

Variant appearance in text: TSC2: I606V
PubMed Link: 35463327
Variant Present in the following documents:
  • Main text
  • fonc-12-871252.pdf
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: TSC2: 1816A>G; Ile606Val; rs371074761
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Analysis of renal cancer cell lines from two major resources enables genomics-guided cell line selection.

Nature Communications
Sinha, Rileen R; Winer, Andrew G AG; Chevinsky, Michael M; Jakubowski, Christopher C; Chen, Ying-Bei YB; Dong, Yiyu Y; Tickoo, Satish K SK; Reuter, Victor E VE; Russo, Paul P; Coleman, Jonathan A JA; Sander, Chris C; Hsieh, James J JJ; Hakimi, A Ari AA
Publication Date: 2017-05-10

Variant appearance in text: TSC2: I606V
PubMed Link: 28489074
Variant Present in the following documents:
  • ncomms15165.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: TSC2: 1816A>G; I606V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: I606V
PubMed Link: 23514105
Variant Present in the following documents:
  • Main text
  • 2040-2392-4-5.pdf
View BVdb publication page