ABCA1 c.2419G>A ;(p.D807N)

Variant ID: 9-107588087-C-T

NM_005502.3(ABCA1):c.2419G>A;(p.D807N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: ABCA1: 2419G>A
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
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: rs563665817
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



The transcriptional and mutational landscapes of lipid metabolism-related genes in colon cancer.

Oncotarget
Fernández, Lara P LP; Ramos-Ruiz, Ricardo R; Herranz, Jesús J; Martín-Hernández, Roberto R; Vargas, Teodoro T; Mendiola, Marta M; Guerra, Laura L; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A
Publication Date: 2018-01-19

Variant appearance in text: ABCA1: Asp807Asn
PubMed Link: 29464044
Variant Present in the following documents:
  • Main text
  • oncotarget-09-5919.pdf
View BVdb publication page