TSC2 c.4589C>T ;(p.S1530L)

Variant ID: 16-2135250-C-T

NM_000548.3(TSC2):c.4589C>T;(p.S1530L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America.

Journal Of Personalized Medicine
Salvo, Mauricio M; González-Feliú, Evelin E; Toro, Jessica J; Gallegos, Iván I; Maureira, Ignacio I; Miranda-González, Nicolás N; Barajas, Olga O; Bustamante, Eva E; Ahumada, Mónica M; Colombo, Alicia A; Armisén, Ricardo R; Villamán, Camilo C; Ibañez, Carolina C; Bravo, María Loreto ML; Sanhueza, Verónica V; Spencer, M Loreto ML; de Toro, Gonzalo G; Morales, Erik E; Bizama, Carolina C; García, Patricia P; Carrasco, Ana María AM; Gutiérrez, Lorena L; Bermejo, Justo Lorenzo JL; Verdugo, Ricardo A RA; Marcelain, Katherine K
Publication Date: 2021-09-08

Variant appearance in text: TSC2: S1530L
PubMed Link: 34575676
Variant Present in the following documents:
  • Main text
  • jpm-11-00899.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: TSC2: S1530L
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TSC2: 4589C>T; S1530L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page