TSC2 c.2815_2816delinsGC ;(p.S939A)

Variant ID: 16-2126564-AG-GC

NM_000548.3(TSC2):c.2815_2816delinsGC;(p.S939A)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


The Tuberin and Cyclin B1 complex functions as a novel G2/M sensor of serum conditions and Akt signaling.

Plos One
Fidalgo da Silva, Elizabeth E; Botsford, Sabrina S; Dare-Shih, Jessica J; Hanna, Miranda A MA; Porter, Lisa A LA
Publication Date: 2019

Variant appearance in text: TSC2: S939A
PubMed Link: 30629673
Variant Present in the following documents:
  • Main text
  • pone.0210612.pdf
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Epstein-Barr Virus-Encoded Latent Membrane Protein 1 Upregulates Glucose Transporter 1 Transcription via the mTORC1/NF-κB Signaling Pathways.

Journal Of Virology
Zhang, Jun J; Jia, Lin L; Lin, Weitao W; Yip, Yim Ling YL; Lo, Kwok Wai KW; Lau, Victoria Ming Yi VMY; Zhu, Dandan D; Tsang, Chi Man CM; Zhou, Yuan Y; Deng, Wen W; Lung, Hong Lok HL; Lung, Maria Li ML; Cheung, Lai Man LM; Tsao, Sai Wah SW
Publication Date: 2017-03-15

Variant appearance in text: TSC2: S939A
PubMed Link: 28053105
Variant Present in the following documents:
  • Main text
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PDK1-SGK1 Signaling Sustains AKT-Independent mTORC1 Activation and Confers Resistance to PI3Kα Inhibition.

Cancer Cell
Castel, Pau P; Ellis, Haley H; Bago, Ruzica R; Toska, Eneda E; Razavi, Pedram P; Carmona, F Javier FJ; Kannan, Srinivasaraghavan S; Verma, Chandra S CS; Dickler, Maura M; Chandarlapaty, Sarat S; Brogi, Edi E; Alessi, Dario R DR; Baselga, José J; Scaltriti, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: TSC2: S939A
PubMed Link: 27451907
Variant Present in the following documents:
  • mmc2.pdf
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Differential IKK/NF-κB Activity Is Mediated by TSC2 through mTORC1 in PTEN-Null Prostate Cancer and Tuberous Sclerosis Complex Tumor Cells.

Molecular Cancer Research : Mcr
Gao, Yu Y; Gartenhaus, Ronald B RB; Lapidus, Rena G RG; Hussain, Arif A; Zhang, Yanting Y; Wang, Xinghuan X; Dan, Han C HC
Publication Date: 2015-12

Variant appearance in text: TSC2: S939A
PubMed Link: 26374334
Variant Present in the following documents:
  • Main text
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A novel Hap1-Tsc1 interaction regulates neuronal mTORC1 signaling and morphogenesis in the brain.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Mejia, Luis A LA; Litterman, Nadia N; Ikeuchi, Yoshiho Y; de la Torre-Ubieta, Luis L; Bennett, Eric J EJ; Zhang, Chi C; Harper, J Wade JW; Bonni, Azad A
Publication Date: 2013-11-13

Variant appearance in text: TSC2: Ser939Ala
PubMed Link: 24227713
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubes.

The Febs Journal
Miyazaki, Mitsunori M; McCarthy, John J JJ; Esser, Karyn A KA
Publication Date: 2010-05

Variant appearance in text: TSC2: S939A
PubMed Link: 20412061
Variant Present in the following documents:
  • Main text
View BVdb publication page



The tuberous sclerosis complex.

Annals Of The New York Academy Of Sciences
Orlova, Ksenia A KA; Crino, Peter B PB
Publication Date: 2010-01

Variant appearance in text: TSC2: S939A
PubMed Link: 20146692
Variant Present in the following documents:
  • Main text
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Insulin stimulates adipogenesis through the Akt-TSC2-mTORC1 pathway.

Plos One
Zhang, Hui H HH; Huang, Jingxiang J; Düvel, Katrin K; Boback, Bernard B; Wu, Shulin S; Squillace, Rachel M RM; Wu, Chin-Lee CL; Manning, Brendan D BD
Publication Date: 2009-07-10

Variant appearance in text: TSC2: S939A
PubMed Link: 19593385
Variant Present in the following documents:
  • Main text
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The TSC1-TSC2 complex: a molecular switchboard controlling cell growth.

The Biochemical Journal
Huang, Jingxiang J; Manning, Brendan D BD
Publication Date: 2008-06-01

Variant appearance in text: TSC2: S939A
PubMed Link: 18466115
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.

Cellular Signalling
Han, Sangyeul S; Witt, Rochelle M RM; Santos, Túlio M TM; Polizzano, Carolyn C; Sabatini, Bernardo L BL; Ramesh, Vijaya V
Publication Date: 2008-06

Variant appearance in text: TSC2: S939A
PubMed Link: 18308511
Variant Present in the following documents:
  • Main text
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Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.

The Journal Of Cell Biology
Cai, Sheng-Li SL; Tee, Andrew R AR; Short, John D JD; Bergeron, Judith M JM; Kim, Jinhee J; Shen, Jianjun J; Guo, Ruifeng R; Johnson, Charles L CL; Kiguchi, Kaoru K; Walker, Cheryl Lyn CL
Publication Date: 2006-04-24

Variant appearance in text: TSC2: S939A
PubMed Link: 16636147
Variant Present in the following documents:
  • Main text
  • jcb1730279.pdf
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The NF1 tumor suppressor critically regulates TSC2 and mTOR.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Johannessen, Cory M CM; Reczek, Elizabeth E EE; James, Marianne F MF; Brems, Hilde H; Legius, Eric E; Cichowski, Karen K
Publication Date: 2005-06-14

Variant appearance in text: tuberin: S939A
PubMed Link: 15937108
Variant Present in the following documents:
  • Main text
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Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Roux, Philippe P PP; Ballif, Bryan A BA; Anjum, Rana R; Gygi, Steven P SP; Blenis, John J
Publication Date: 2004-09-14

Variant appearance in text: tuberin: S939A
PubMed Link: 15342917
Variant Present in the following documents:
  • Main text
View BVdb publication page