TSC2 c.1618_1619inv ;(p.S540D)

Variant ID: 16-2115538-TC-GA

NM_000548.3(TSC2):c.1618_1619inv;(p.S540D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Tsc2-Rheb signaling regulates EphA-mediated axon guidance.

Nature Neuroscience
Nie, Duyu D; Di Nardo, Alessia A; Han, Juliette M JM; Baharanyi, Hasani H; Kramvis, Ioannis I; Huynh, Thanhthao T; Dabora, Sandra S; Codeluppi, Simone S; Pandolfi, Pier Paolo PP; Pasquale, Elena B EB; Sahin, Mustafa M
Publication Date: 2010-02

Variant appearance in text: TSC2: S540D
PubMed Link: 20062052
Variant Present in the following documents:
  • nihms165636.pdf
View BVdb publication page



Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.

Molecular And Cellular Biology
Distefano, Gianfranco G; Boca, Manila M; Rowe, Isaline I; Wodarczyk, Claas C; Ma, Li L; Piontek, Klaus B KB; Germino, Gregory G GG; Pandolfi, Pier Paolo PP; Boletta, Alessandra A
Publication Date: 2009-05

Variant appearance in text: TSC2: S540D
PubMed Link: 19255143
Variant Present in the following documents:
  • Main text
View BVdb publication page