TSC2 c.4929C>G ;(p.N1643K)

Variant ID: 16-2136812-C-G

NM_000548.3(TSC2):c.4929C>G;(p.N1643K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Publication Date: 2021-01-22

Variant appearance in text: TSC2: N1643K
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



The mTORC1 Signaling Network Senses Changes in Cellular Purine Nucleotide Levels.

Cell Reports
Hoxhaj, Gerta G; Hughes-Hallett, James J; Timson, Rebecca C RC; Ilagan, Erika E; Yuan, Min M; Asara, John M JM; Ben-Sahra, Issam I; Manning, Brendan D BD
Publication Date: 2017-10-31

Variant appearance in text: TSC2: N1643K
PubMed Link: 29091770
Variant Present in the following documents:
  • Main text
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: N1643K
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: N1643K
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



Hypoxia-induced energy stress regulates mRNA translation and cell growth.

Molecular Cell
Liu, Liping L; Cash, Timothy P TP; Jones, Russell G RG; Keith, Brian B; Thompson, Craig B CB; Simon, M Celeste MC
Publication Date: 2006-02-17

Variant appearance in text: TSC2: N1643K
PubMed Link: 16483933
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tsc2 is not a critical target of Akt during normal Drosophila development.

Genes & Development
Dong, Jixin J; Pan, Duojia D
Publication Date: 2004-10-15

Variant appearance in text: TSC2: N1643K
PubMed Link: 15466161
Variant Present in the following documents:
  • Main text
View BVdb publication page



The TSC1-2 tumor suppressor controls insulin-PI3K signaling via regulation of IRS proteins.

The Journal Of Cell Biology
Harrington, Laura S LS; Findlay, Greg M GM; Gray, Alex A; Tolkacheva, Tatiana T; Wigfield, Simon S; Rebholz, Heike H; Barnett, Jill J; Leslie, Nick R NR; Cheng, Susan S; Shepherd, Peter R PR; Gout, Ivan I; Downes, C Peter CP; Lamb, Richard F RF
Publication Date: 2004-07-19

Variant appearance in text: TSC2: N1643K
PubMed Link: 15249583
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent.

The Journal Of Cell Biology
Jaeschke, Anja A; Hartkamp, Joerg J; Saitoh, Masao M; Roworth, Wendy W; Nobukuni, Takahiro T; Hodges, Angela A; Sampson, Julian J; Thomas, George G; Lamb, Richard R
Publication Date: 2002-10-28

Variant appearance in text: TSC2: N1643K
PubMed Link: 12403809
Variant Present in the following documents:
  • Main text
  • 200206108.pdf
View BVdb publication page