TSC2 c.4747G>T ;(p.E1583*)

Variant ID: 16-2136278-G-T

NM_000548.3(TSC2):c.4747G>T;(p.E1583*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: TSC2: E1583*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Nature Genetics
Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J
Publication Date: 2015-05

Variant appearance in text: TSC2: E1583X
PubMed Link: 25822088
Variant Present in the following documents:
  • NIHMS62359-supplement-Table3.xlsx, sheet 1
View BVdb publication page