KSR2 c.524C>T ;(p.T175M)

Variant ID: 12-118199278-G-A

NM_173598.6(KSR2):c.524C>T;(p.T175M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs200451365
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
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: rs200451365
PubMed Link: 24209692
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page