ABCA1 c.2971G>A ;(p.E991K)

Variant ID: 9-107582340-C-T

NM_005502.3(ABCA1):c.2971G>A;(p.E991K)

This variant was identified in 3 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: 2971G>A; Glu991Lys; rs529115106
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs529115106
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



Prognostic significance of frequent CLDN18-ARHGAP26/6 fusion in gastric signet-ring cell cancer.

Nature Communications
Shu, Yang Y; Zhang, Weihan W; Hou, Qianqian Q; Zhao, Linyong L; Zhang, Shouyue S; Zhou, Jiankang J; Song, Xiaohai X; Zhang, Yan Y; Jiang, Dan D; Chen, Xinzu X; Wang, Peiqi P; Xia, Xuyang X; Liao, Fei F; Yin, Dandan D; Chen, Xiaolong X; Zhou, Xueyan X; Zhang, Duyu D; Yin, Senlin S; Yang, Kun K; Liu, Jianping J; Fu, Leilei L; Zhang, Lan L; Wang, Yuelan Y; Zhang, Junlong J; An, Yunfei Y; Cheng, Hua H; Zheng, Bin B; Sun, Hongye H; Zhao, Yinglan Y; Wang, Yongsheng Y; Xie, Dan D; Ouyang, Liang L; Wang, Ping P; Zhang, Wei W; Qiu, Meng M; Fu, Xianghui X; Dai, Lunzhi L; He, Gu G; Yang, Hanshuo H; Cheng, Wei W; Yang, Li L; Liu, Bo B; Li, Weimin W; Dong, Biao B; Zhou, Zongguang Z; Wei, Yuquan Y; Peng, Yong Y; Xu, Heng H; Hu, Jiankun J
Publication Date: 2018-06-30

Variant appearance in text: ABCA1: E991K
PubMed Link: 29961079
Variant Present in the following documents:
  • 41467_2018_4907_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page