Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.A594T
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ABCA1

NM_005502.4:p.A594T

Associated Papers

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

Targeted pharmacotherapies for defective ABC transporters.

Vauthier V et al.

Biochemical Pharmacology, 2017

Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.

Hegde RN et al.

Tissue & Cell, 2017

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

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

Sorrenson B et al.

Journal of Lipid Research, 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."