PPARG c.935A>C ;(p.Q312P)

Variant ID: 3-12458408-A-C

NM_138711.3(PPARG):c.935A>C;(p.Q312P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family.

Frontiers In Endocrinology
Verma, Sonia S; Chakraborti, Soumyananda S; Singh, Om P OP; Pande, Veena V; Dixit, Rajnikant R; Pandey, Amit V AV; Pandey, Kailash C KC
Publication Date: 2022

Variant appearance in text: PPARG: Q314P
PubMed Link: 36246927
Variant Present in the following documents:
  • Main text
  • fendo-13-981090.pdf
View BVdb publication page



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: 941A>C
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



High Expression Level of PPARγ in CD24 Knockout Mice and Gender-Specific Metabolic Changes: A Model of Insulin-Sensitive Obesity.

Journal Of Personalized Medicine
Shapira, Shiran S; Kazanov, Dina D; Dankner, Rachel R; Fishman, Sigal S; Stern, Naftali N; Arber, Nadir N
Publication Date: 2021-01-15

Variant appearance in text: PPARG2: Q314P
PubMed Link: 33467499
Variant Present in the following documents:
  • jpm-11-00050.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PPARG: Q314P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page