TSC2 c.4129C>T ;(p.Q1377*)

Variant ID: 16-2134352-C-T

NM_000548.3(TSC2):c.4129C>T;(p.Q1377*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

Genetics And Molecular Biology
Wang, Wenda W; Zhao, Yang Y; Wang, Xu X; Wang, Zhan Z; Cai, Yi Y; Li, Hanzhong H; Zhang, Yushi Y
Publication Date: 2022

Variant appearance in text: TSC2: 4129C>T
PubMed Link: 35638823
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-45-2-e20200387.pdf
View BVdb publication page



Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Cancer Drug Resistance (Alhambra, Calif.)
Alonso-Peña, Marta M; Sanchez-Martin, Anabel A; Sanchon-Sanchez, Paula P; Soto-Muñiz, Meraris M; Espinosa-Escudero, Ricardo R; Marin, Jose J G JJG
Publication Date: 2019

Variant appearance in text: TSC2: 4129C>T; Gln1377*
PubMed Link: 35582588
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma.

Cells
Reed, Megan R MR; Lyle, A Geoffrey AG; De Loose, Annick A; Maddukuri, Leena L; Learned, Katrina K; Beale, Holly C HC; Kephart, Ellen T ET; Cheney, Allison A; van den Bout, Anouk A; Lee, Madison P MP; Hundley, Kelsey N KN; Smith, Ashley M AM; DesRochers, Teresa M TM; Vibat, Cecile Rose T CRT; Gokden, Murat M; Salama, Sofie S; Wardell, Christopher P CP; Eoff, Robert L RL; Vaske, Olena M OM; Rodriguez, Analiz A
Publication Date: 2021-12-02

Variant appearance in text: TSC2: Q1377*
PubMed Link: 34943910
Variant Present in the following documents:
  • Main text
  • cells-10-03400.pdf
View BVdb publication page



A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma.

Cells
Reed, Megan R MR; Lyle, A Geoffrey AG; De Loose, Annick A; Maddukuri, Leena L; Learned, Katrina K; Beale, Holly C HC; Kephart, Ellen T ET; Cheney, Allison A; van den Bout, Anouk A; Lee, Madison P MP; Hundley, Kelsey N KN; Smith, Ashley M AM; DesRochers, Teresa M TM; Vibat, Cecile Rose T CRT; Gokden, Murat M; Salama, Sofie S; Wardell, Christopher P CP; Eoff, Robert L RL; Vaske, Olena M OM; Rodriguez, Analiz A
Publication Date: 2021-12-02

Variant appearance in text: TSC2: Q1377*
PubMed Link: 34943910
Variant Present in the following documents:
  • Main text
  • cells-10-03400.pdf
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 4129C>T
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication.

Gut
Ho, Daniel W H DWH; Chan, Lo K LK; Chiu, Yung T YT; Xu, Iris M J IMJ; Poon, Ronnie T P RTP; Cheung, Tan T TT; Tang, Chung N CN; Tang, Victor W L VWL; Lo, Irene L O ILO; Lam, Polly W Y PWY; Yau, Derek T W DTW; Li, Miao X MX; Wong, Chun M CM; Ng, Irene O L IOL
Publication Date: 2017-08

Variant appearance in text: TSC2: Q1377X
PubMed Link: 27974549
Variant Present in the following documents:
  • Main text
  • gutjnl-2016-312734.pdf
  • gutjnl-2016-312734supp001.pdf
View BVdb publication page