TSC2 c.*516A>T

Variant ID: 16-2139127-A-T

NM_000548.3(TSC2):c.*516A>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3087631
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs3087631
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs3087631
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



AMPK variant, a candidate of novel predictor for chemotherapy in metastatic colorectal cancer: A meta-analysis using TRIBE, MAVERICC and FIRE3.

International Journal Of Cancer
Tokunaga, Ryuma R; Cao, Shu S; Naseem, Madiha M; Battaglin, Francesca F; Lo, Jae Ho JH; Arai, Hiroyuki H; Loupakis, Fotios F; Stintzing, Sebastian S; Puccini, Alberto A; Berger, Martin D MD; Soni, Shivani S; Zhang, Wu W; Mancao, Christoph C; Salhia, Bodour B; Mumenthaler, Shannon M SM; Weisenberger, Daniel J DJ; Liang, Gangning G; Cremolini, Chiara C; Heinemann, Volker V; Falcone, Alfredo A; Millstein, Joshua J; Lenz, Heinz-Josef HJ
Publication Date: 2019-10-15

Variant appearance in text: rs3087631
PubMed Link: 30856283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects.

International Journal Of Molecular Sciences
Granata, Simona S; Dalla Gassa, Alessandra A; Carraro, Amedeo A; Brunelli, Matteo M; Stallone, Giovanni G; Lupo, Antonio A; Zaza, Gianluigi G
Publication Date: 2016-05-14

Variant appearance in text: rs3087631
PubMed Link: 27187382
Variant Present in the following documents:
  • Main text
  • ijms-17-00735.pdf
View BVdb publication page



Influence of CHIEF pathway genes on gene expression: a pathway approach to functionality.

International Journal Of Molecular Epidemiology And Genetics
Slattery, Martha L ML; Lundgreen, Abbie A; Mullany, Lila E LE; Penney, Rosalind B RB; Wolff, Roger K RK
Publication Date: 2014

Variant appearance in text: rs3087631
PubMed Link: 24959314
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of correlation between in silico projection of function and quantitative real-time PCR-determined gene expression levels in colon tissue.

Pharmacogenomics And Personalized Medicine
Penney, Rosalind B RB; Lundgreen, Abbie A; Yao-Borengasser, Aiwei A; Koroth-Edavana, Vineetha V; Williams, Suzanne S; Wolff, Roger R; Slattery, Martha L ML; Kadlubar, Susan S
Publication Date: 2013

Variant appearance in text: rs3087631
PubMed Link: 24101876
Variant Present in the following documents:
  • Main text
  • pgpm-6-099.pdf
View BVdb publication page



Diet and colorectal cancer: analysis of a candidate pathway using SNPS, haplotypes, and multi-gene assessment.

Nutrition And Cancer
Slattery, Martha L ML; Lundgreen, Abbie A; Herrick, Jennifer S JS; Caan, Bette J BJ; Potter, John D JD; Wolff, Roger K RK
Publication Date: 2011-11

Variant appearance in text: rs3087631
PubMed Link: 21999454
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1.

Carcinogenesis
Slattery, Martha L ML; Herrick, Jennifer S JS; Lundgreen, Abbie A; Fitzpatrick, Francis A FA; Curtin, Karen K; Wolff, Roger K RK
Publication Date: 2010-09

Variant appearance in text: rs3087631
PubMed Link: 20622004
Variant Present in the following documents:
  • Main text
View BVdb publication page