Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.G616V
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ABCA1

NM_005502.4:p.G616V

Associated Papers

Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.

Teigen M et al.

Journal of Lipid Research, 2024

Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.

Dash R et al.

International Journal of Molecular Sciences, 2020

33066695 (PubMed )
Supplement: ijms-21-07606-s001.zip › Supplementary_Files › Supplementary_File_1..xlsx › Sheet1

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

Marín-Martín FR et al.

Cholesterol, 2014

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.

Reddy MV et al.

Circulation. Cardiovascular Genetics, 2012

Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency.

Alrasadi K et al.

Atherosclerosis, 2006

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