Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.E868K
Back to variants list

ABCA1

NM_005502.4:p.E868K

Associated Papers

Functional characterization of genetic variants affecting the intracellular domains of ATP-binding cassette transporter A1 (ABCA1).

Teigen M et al.

Journal of Lipid Research, 2025

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

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

ABC transporter genes and risk of type 2 diabetes: a study of 40,000 individuals from the general population.

Schou J et al.

Diabetes Care, 2012

23139370 (PubMed )
Supplement: supp_dc12-0082v120082_DC120082SupplementaryData.pdf

Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotype.

Mantaring M et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."