PPARG c.856C>T ;(p.R286C)

Variant ID: 3-12458329-C-T

NM_138711.3(PPARG):c.856C>T;(p.R286C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications
Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA
Publication Date: 2022-08-23

Variant appearance in text: PPARG: 862C>T; Arg288Cys; rs1364613522
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Exome sequencing and analysis of 454,787 UK Biobank participants.

Nature
Backman, Joshua D JD; Li, Alexander H AH; Marcketta, Anthony A; Sun, Dylan D; Mbatchou, Joelle J; Kessler, Michael D MD; Benner, Christian C; Liu, Daren D; Locke, Adam E AE; Balasubramanian, Suganthi S; Yadav, Ashish A; Banerjee, Nilanjana N; Gillies, Christopher E CE; Damask, Amy A; Liu, Simon S; Bai, Xiaodong X; Hawes, Alicia A; Maxwell, Evan E; Gurski, Lauren L; Watanabe, Kyoko K; Kosmicki, Jack A JA; Rajagopal, Veera V; Mighty, Jason J; , ; , ; Jones, Marcus M; Mitnaul, Lyndon L; Stahl, Eli E; Coppola, Giovanni G; Jorgenson, Eric E; Habegger, Lukas L; Salerno, William J WJ; Shuldiner, Alan R AR; Lotta, Luca A LA; Overton, John D JD; Cantor, Michael N MN; Reid, Jeffrey G JG; Yancopoulos, George G; Kang, Hyun M HM; Marchini, Jonathan J; Baras, Aris A; Abecasis, Gonçalo R GR; Ferreira, Manuel A R MAR
Publication Date: 2021-11

Variant appearance in text: PPARG: Arg288Cys
PubMed Link: 34662886
Variant Present in the following documents:
  • 41586_2021_4103_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



PPARs as Metabolic Sensors and Therapeutic Targets in Liver Diseases.

International Journal Of Molecular Sciences
Monroy-Ramirez, Hugo Christian HC; Galicia-Moreno, Marina M; Sandoval-Rodriguez, Ana A; Meza-Rios, Alejandra A; Santos, Arturo A; Armendariz-Borunda, Juan J
Publication Date: 2021-08-02

Variant appearance in text: PPARG: R288C
PubMed Link: 34361064
Variant Present in the following documents:
  • ijms-22-08298.pdf
View BVdb publication page



Differential Effects of Cancer-Associated Mutations Enriched in Helix H3 of PPARγ.

Cancers
Jang, Dong Man DM; Jang, Jun Young JY; Kim, Hyun-Jung HJ; Han, Byung Woo BW
Publication Date: 2020-11-30

Variant appearance in text: PPARG: R288C
PubMed Link: 33266062
Variant Present in the following documents:
  • Main text
  • cancers-12-03580.pdf
View BVdb publication page