ABCA1 c.1975A>G ;(p.I659V)

Variant ID: 9-107591337-T-C

NM_005502.3(ABCA1):c.1975A>G;(p.I659V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol
Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A
Publication Date: 2014

Variant appearance in text: ABCA1: I659V
PubMed Link: 25215231
Variant Present in the following documents:
  • CHOLESTEROL2014-639751.pdf
View BVdb publication page



Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate.

Journal Of Lipid Research
Sorrenson, Brie B; Suetani, Rachel J RJ; Williams, Michael J A MJ; Bickley, Vivienne M VM; George, Peter M PM; Jones, Gregory T GT; McCormick, Sally P A SP
Publication Date: 2013-01

Variant appearance in text: ABCA1: I659V
PubMed Link: 23087442
Variant Present in the following documents:
  • Main text
View BVdb publication page