ABCA1 c.3149G>T ;(p.G1050V)

Variant ID: 9-107581959-C-A

NM_005502.3(ABCA1):c.3149G>T;(p.G1050V)

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: ABCA1: 3149G>T; Gly1050Val; rs985622413
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.

International Journal Of Molecular Sciences
Dash, Raju R; Ali, Md Chayan MC; Rana, Md Liton ML; Munni, Yeasmin Akter YA; Barua, Largess L; Jahan, Israt I; Haque, Mst Fatema MF; Hannan, Md Abdul MA; Moon, Il Soo IS
Publication Date: 2020-10-14

Variant appearance in text: ABCA1: G1050V; rs985622413
PubMed Link: 33066695
Variant Present in the following documents:
  • Main text
  • ijms-21-07606.pdf
View BVdb publication page