TSC2 c.1985C>T ;(p.P662L)

Variant ID: 16-2121823-C-T

NM_000548.3(TSC2):c.1985C>T;(p.P662L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: TSC2: P662L
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: TSC2: P662L
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
View BVdb publication page



KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.

Cell
Pearce, Laura R LR; Atanassova, Neli N; Banton, Matthew C MC; Bottomley, Bill B; van der Klaauw, Agatha A AA; Revelli, Jean-Pierre JP; Hendricks, Audrey A; Keogh, Julia M JM; Henning, Elana E; Doree, Deon D; Jeter-Jones, Sabrina S; Garg, Sumedha S; Bochukova, Elena G EG; Bounds, Rebecca R; Ashford, Sofie S; Gayton, Emma E; Hindmarsh, Peter C PC; Shield, Julian P H JP; Crowne, Elizabeth E; Barford, David D; Wareham, Nick J NJ; , ; O'Rahilly, Stephen S; Murphy, Michael P MP; Powell, David R DR; Barroso, Ines I; Farooqi, I Sadaf IS
Publication Date: 2013-11-07

Variant appearance in text: TSC2: P662L
PubMed Link: 24209692
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.pdf
View BVdb publication page