TSC2 c.2807G>T ;(p.R936L)

Variant ID: 16-2126556-G-T

NM_000548.3(TSC2):c.2807G>T;(p.R936L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: R936L
PubMed Link: 24209692
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page