CD36 c.47G>A ;(p.G16D)

Variant ID: 7-80276103-G-A

NM_001001548.2(CD36):c.47G>A;(p.G16D)

This variant was identified in 2 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: CD36: 47G>A; Gly16Asp
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype.

Molecular Therapy. Methods & Clinical Development
Weber, Leslie L; Poletti, Valentina V; Magrin, Elisa E; Antoniani, Chiara C; Martin, Samia S; Bayard, Charles C; Sadek, Hanem H; Felix, Tristan T; Meneghini, Vasco V; Antoniou, Michael N MN; El-Nemer, Wassim W; Mavilio, Fulvio F; Cavazzana, Marina M; Andre-Schmutz, Isabelle I; Miccio, Annarita A
Publication Date: 2018-09-21

Variant appearance in text: CD36: G16D
PubMed Link: 30140714
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page