Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.R579Q
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ABCA1

NM_005502.4:p.R579Q

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

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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

Dergunov AD et al.

The Journal of Membrane Biology, 2019

Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins.

Bochem AE et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2015

ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden.

Bochem AE et al.

European Heart Journal, 2013

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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."