ABCA1 c.2222C>G ;(p.S741C)

Variant ID: 9-107589344-G-C

NM_005502.3(ABCA1):c.2222C>G;(p.S741C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs762112742
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: ABCA1: 2222C>G; Ser741Cys; rs762112742
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: S741C; rs762112742
PubMed Link: 33066695
Variant Present in the following documents:
  • Main text
  • ijms-21-07606.pdf
View BVdb publication page