Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.V589I
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ABCA1

NM_005502.4:p.V589I

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

High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.

Bloyd M et al.

Frontiers in Endocrinology, 2023

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

Significance of Cholesterol-Binding Motifs in ABCA1, ABCG1, and SR-B1 Structure.

Dergunov AD et al.

The Journal of Membrane Biology, 2019

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."