TSC2 c.1844T>C ;(p.F615S)

Variant ID: 16-2121515-T-C

NM_000548.3(TSC2):c.1844T>C;(p.F615S)

This variant was identified in 6 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: F615S
PubMed Link: 35096832
Variant Present in the following documents:
  • Main text
  • fcell-09-806521.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: TSC2: F615S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: TSC2: F615S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: F615S
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: F615S
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: F615S
PubMed Link: 19506736
Variant Present in the following documents:
  • Main text
  • CG-9-475.pdf
View BVdb publication page