PPARG c.386G>A ;(p.C129Y)

Variant ID: 3-12422986-G-A

NM_138711.3(PPARG):c.386G>A;(p.C129Y)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


GEOMetaCuration: a web-based application for accurate manual curation of Gene Expression Omnibus metadata.

Database : The Journal Of Biological Databases And Curation
Li, Zhao Z; Li, Jin J; Yu, Peng P
Publication Date: 2018-01-01

Variant appearance in text: PPARgamma: C131Y
PubMed Link: 29688376
Variant Present in the following documents:
  • bay019_supp.xlsx, sheet 2
View BVdb publication page



PPARG: Gene Expression Regulation and Next-Generation Sequencing for Unsolved Issues.

Ppar Research
Costa, Valerio V; Gallo, Maria Assunta MA; Letizia, Francesca F; Aprile, Marianna M; Casamassimi, Amelia A; Ciccodicola, Alfredo A
Publication Date: 2010

Variant appearance in text: PPARG: Cys131Tyr
PubMed Link: 20871817
Variant Present in the following documents:
  • Main text
  • PPAR2010-409168.pdf
View BVdb publication page



PPARgamma in human and mouse physiology.

Biochimica Et Biophysica Acta
Heikkinen, Sami S; Auwerx, Johan J; Argmann, Carmen A CA
Publication Date: 2007-08

Variant appearance in text: PPARgamma: Cys131Tyr
PubMed Link: 17475546
Variant Present in the following documents:
  • Main text
View BVdb publication page



Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.

Cell Metabolism
Agostini, Maura M; Schoenmakers, Erik E; Mitchell, Catherine C; Szatmari, Istvan I; Savage, David D; Smith, Aaron A; Rajanayagam, Odelia O; Semple, Robert R; Luan, Jian'an J; Bath, Louise L; Zalin, Anthony A; Labib, Mourad M; Kumar, Sudhesh S; Simpson, Helen H; Blom, Dirk D; Marais, David D; Schwabe, John J; Barroso, InĂªs I; Trembath, Richard R; Wareham, Nicholas N; Nagy, Laszlo L; Gurnell, Mark M; O'Rahilly, Stephen S; Chatterjee, Krishna K
Publication Date: 2006-10

Variant appearance in text: PPARG: C131Y
PubMed Link: 17011503
Variant Present in the following documents:
  • Main text
View BVdb publication page



PPAR gamma and human metabolic disease.

The Journal Of Clinical Investigation
Semple, Robert K RK; Chatterjee, V Krishna K VK; O'Rahilly, Stephen S
Publication Date: 2006-03

Variant appearance in text: PPARG: C131Y
PubMed Link: 16511590
Variant Present in the following documents:
  • Main text
View BVdb publication page