TSC2 c.4093_4094inv ;(p.S1365E)

Variant ID: 16-2134316-TC-GA

NM_000548.3(TSC2):c.4093_4094inv;(p.S1365E)

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: S1365E
PubMed Link: 35288456
Variant Present in the following documents:
  • LSA-2021-01169_review_history.pdf
View BVdb publication page



Phosphorylation Modifications Regulating Cardiac Protein Quality Control Mechanisms.

Frontiers In Physiology
Mishra, Sumita S; Dunkerly-Eyring, Brittany L BL; Keceli, Gizem G; Ranek, Mark J MJ
Publication Date: 2020

Variant appearance in text: TSC2: S1365E
PubMed Link: 33281625
Variant Present in the following documents:
  • Main text
  • fphys-11-593585.pdf
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: S1365E
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: S1365E
PubMed Link: 30700906
Variant Present in the following documents:
  • Main text
  • nihms-1516721.pdf
View BVdb publication page