ABCA1 c.2372G>C ;(p.C791S)

Variant ID: 9-107588134-C-G

NM_005502.3(ABCA1):c.2372G>C;(p.C791S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: ABCA1: 2372G>C; C791S
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
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: rs1286052066
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1.

The Journal Of Biological Chemistry
Hozoji, Masako M; Kimura, Yasuhisa Y; Kioka, Noriyuki N; Ueda, Kazumitsu K
Publication Date: 2009-04-24

Variant appearance in text: ABCA1: C791S
PubMed Link: 19258317
Variant Present in the following documents:
  • Main text
View BVdb publication page