TSC2 c.4093T>G ;(p.S1365A)

Variant ID: 16-2134316-T-G

NM_000548.3(TSC2):c.4093T>G;(p.S1365A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Single serine on TSC2 exerts biased control over mTORC1 activation mediated by ERK1/2 but not Akt.

Life Science Alliance
Dunkerly-Eyring, Brittany L BL; Pan, Shi S; Pinilla-Vera, Miguel M; McKoy, Desirae D; Mishra, Sumita S; Grajeda Martinez, Maria I MI; Oeing, Christian U CU; Ranek, Mark J MJ; Kass, David A DA
Publication Date: 2022-06

Variant appearance in text: TSC2: S1365A
PubMed Link: 35288456
Variant Present in the following documents:
  • LSA-2021-01169_review_history.pdf
View BVdb publication page



Autophagy in major human diseases.

The Embo Journal
Klionsky, Daniel J DJ; Petroni, Giulia G; Amaravadi, Ravi K RK; Baehrecke, Eric H EH; Ballabio, Andrea A; Boya, Patricia P; Bravo-San Pedro, José Manuel JM; Cadwell, Ken K; Cecconi, Francesco F; Choi, Augustine M K AMK; Choi, Mary E ME; Chu, Charleen T CT; Codogno, Patrice P; Colombo, Maria Isabel MI; Cuervo, Ana Maria AM; Deretic, Vojo V; Dikic, Ivan I; Elazar, Zvulun Z; Eskelinen, Eeva-Liisa EL; Fimia, Gian Maria GM; Gewirtz, David A DA; Green, Douglas R DR; Hansen, Malene M; Jäättelä, Marja M; Johansen, Terje T; Juhász, Gábor G; Karantza, Vassiliki V; Kraft, Claudine C; Kroemer, Guido G; Ktistakis, Nicholas T NT; Kumar, Sharad S; Lopez-Otin, Carlos C; Macleod, Kay F KF; Madeo, Frank F; Martinez, Jennifer J; Meléndez, Alicia A; Mizushima, Noboru N; Münz, Christian C; Penninger, Josef M JM; Perera, Rushika M RM; Piacentini, Mauro M; Reggiori, Fulvio F; Rubinsztein, David C DC; Ryan, Kevin M KM; Sadoshima, Junichi J; Santambrogio, Laura L; Scorrano, Luca L; Simon, Hans-Uwe HU; Simon, Anna Katharina AK; Simonsen, Anne A; Stolz, Alexandra A; Tavernarakis, Nektarios N; Tooze, Sharon A SA; Yoshimori, Tamotsu T; Yuan, Junying J; Yue, Zhenyu Z; Zhong, Qing Q; Galluzzi, Lorenzo L; Pietrocola, Federico F
Publication Date: 2021-10-01

Variant appearance in text: TSC2: S1365A
PubMed Link: 34459017
Variant Present in the following documents:
  • Main text
View BVdb publication page



PKG1α Cysteine-42 Redox State Controls mTORC1 Activation in Pathological Cardiac Hypertrophy.

Circulation Research
Oeing, Christian U CU; Nakamura, Taishi T; Pan, Shi S; Mishra, Sumita S; Dunkerly-Eyring, Brittany L BL; Kokkonen-Simon, Kristen M KM; Lin, Brian L BL; Chen, Anna A; Zhu, Guangshuo G; Bedja, Djahida D; Lee, Dong Ik DI; Kass, David A DA; Ranek, Mark J MJ
Publication Date: 2020-07-31

Variant appearance in text: TSC2: S1365A
PubMed Link: 32393148
Variant Present in the following documents:
  • Main text
View BVdb publication page



PKG1-modified TSC2 regulates mTORC1 activity to counter adverse cardiac stress.

Nature
Ranek, Mark J MJ; Kokkonen-Simon, Kristen M KM; Chen, Anna A; Dunkerly-Eyring, Brittany L BL; Vera, Miguel Pinilla MP; Oeing, Christian U CU; Patel, Chirag H CH; Nakamura, Taishi T; Zhu, Guangshuo G; Bedja, Djahida D; Sasaki, Masayuki M; Holewinski, Ronald J RJ; Van Eyk, Jennifer E JE; Powell, Jonathan D JD; Lee, Dong Ik DI; Kass, David A DA
Publication Date: 2019-02

Variant appearance in text: TSC2: S1365A
PubMed Link: 30700906
Variant Present in the following documents:
  • Main text
  • NIHMS1516721-supplement-Reporting_summary.pdf
  • nihms-1516721.pdf
View BVdb publication page