TSC2 c.482-348A>G

Variant ID: 16-2105055-A-G

NM_000548.3(TSC2):c.482-348A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: rs2073636
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Are mTOR and Endoplasmic Reticulum Stress Pathway Genes Associated with Oral and Bone Diseases?

Caries Research
Bezamat, Mariana M; Deeley, Kathleen K; Khaliq, Shahryar S; Letra, Ariadne A; Scariot, Rafaela R; Silva, Renato M RM; Weber, Megan L ML; Bussaneli, Diego G DG; Trevilatto, Paula C PC; Almarza, Alejandro J AJ; Ouyang, Hongjiao H; Vieira, Alexandre R AR
Publication Date: 2019

Variant appearance in text: rs2073636
PubMed Link: 30205378
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib.

Scientific Reports
Cebrián, Arancha A; Gómez Del Pulgar, Teresa T; Méndez-Vidal, María José MJ; Gonzálvez, María Luisa ML; Lainez, Nuria N; Castellano, Daniel D; García-Carbonero, Iciar I; Esteban, Emilio E; Sáez, Maria Isabel MI; Villatoro, Rosa R; Suárez, Cristina C; Carrato, Alfredo A; Munárriz-Ferrándiz, Javier J; Basterrechea, Laura L; García-Alonso, Mirta M; González-Larriba, José Luis JL; Perez-Valderrama, Begoña B; Cruz-Jurado, Josefina J; González Del Alba, Aránzazu A; Moreno, Fernando F; Reynés, Gaspar G; Rodríguez-Remírez, María M; Boni, Valentina V; Mahillo-Fernández, Ignacio I; Martin, Yolanda Y; Viqueira, Andrea A; García-Foncillas, Jesús J
Publication Date: 2017-01-24

Variant appearance in text: rs2073636
PubMed Link: 28117391
Variant Present in the following documents:
  • Main text
  • srep41371.pdf
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: rs2073636
PubMed Link: 27187382
Variant Present in the following documents:
  • Main text
  • ijms-17-00735.pdf
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: rs2073636
PubMed Link: 24101876
Variant Present in the following documents:
  • Main text
  • pgpm-6-099.pdf
View BVdb publication page



Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives
Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC
Publication Date: 2011-12

Variant appearance in text: rs2073636
PubMed Link: 21810555
Variant Present in the following documents:
  • ehp.1103454.s001.pdf
View BVdb publication page



Energy balance, the PI3K-AKT-mTOR pathway genes, and the risk of bladder cancer.

Cancer Prevention Research (Philadelphia, Pa.)
Lin, Jie J; Wang, Jianming J; Greisinger, Anthony J AJ; Grossman, H Barton HB; Forman, Michele R MR; Dinney, Colin P CP; Hawk, Ernest T ET; Wu, Xifeng X
Publication Date: 2010-04

Variant appearance in text: rs2073636
PubMed Link: 20354165
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in PI3K-AKT-mTOR pathway and bladder cancer risk.

Carcinogenesis
Chen, Meng M; Cassidy, Adrian A; Gu, Jian J; Delclos, George L GL; Zhen, Fan F; Yang, Hushan H; Hildebrandt, Michelle A T MA; Lin, Jie J; Ye, Yuanqing Y; Chamberlain, Robert M RM; Dinney, Colin P CP; Wu, Xifeng X
Publication Date: 2009-12

Variant appearance in text: rs2073636
PubMed Link: 19875696
Variant Present in the following documents:
  • Main text
View BVdb publication page