TSC2 c.1796A>T ;(p.K599M)

Variant ID: 16-2120536-A-T

NM_000548.3(TSC2):c.1796A>T;(p.K599M)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Beyond Protein Synthesis; The Multifaceted Roles of Tuberin in Cell Cycle Regulation.

Frontiers In Cell And Developmental Biology
Fidalgo da Silva, E E; Fong, J J; Roye-Azar, A A; Nadi, A A; Drouillard, C C; Pillon, A A; Porter, L A LA
Publication Date: 2021

Variant appearance in text: TSC2: K599M
PubMed Link: 35096832
Variant Present in the following documents:
  • Main text
  • fcell-09-806521.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: TSC2: K599M
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: K599M
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



Genetics and molecular biology of tuberous sclerosis complex.

Current Genomics
Napolioni, Valerio V; Curatolo, Paolo P
Publication Date: 2008-11

Variant appearance in text: tuberin: K599M
PubMed Link: 19506736
Variant Present in the following documents:
  • Main text
  • CG-9-475.pdf
View BVdb publication page



Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tee, Andrew R AR; Fingar, Diane C DC; Manning, Brendan D BD; Kwiatkowski, David J DJ; Cantley, Lewis C LC; Blenis, John J
Publication Date: 2002-10-15

Variant appearance in text: tuberin: K599M
PubMed Link: 12271141
Variant Present in the following documents:
  • Main text
View BVdb publication page