Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.Q597R
Back to variants list

ABCA1

NM_005502.4:p.Q597R

Associated Papers

The structural characteristics of cellular phospholipid acyl chains required for ABCA1-mediated HDL formation.

Nagao K et al.

The Journal of Biological Chemistry, 2025

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Akbari P et al.

Nature Communications, 2022

35999217 (PubMed )
Supplement: 41467_2022_32398_MOESM4_ESM.xlsx › Supp._Data_4

Role of ABCA1 in Cardiovascular Disease.

Wang J et al.

Journal of Personalized Medicine, 2022

ABCA7, a Genetic Risk Factor Associated with Alzheimer's Disease Risk in African Americans.

Stepler KE et al.

Journal of Alzheimer's Disease : Jad, 2022

The ABCs of Sterol Transport.

Plummer AM et al.

Annual Review of Physiology, 2021

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

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

Importance of genetic background of oxysterol signaling in cancer.

Holy P et al.

Biochimie, 2018

Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.

Hegde RN et al.

Tissue & Cell, 2017

Genetic score based on high-risk genetic polymorphisms and early onset of ischemic heart disease in an Italian cohort of ischemic patients.

Vecoli C et al.

Thrombosis Research, 2014

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

ABCA1 mediates unfolding of apolipoprotein AI N terminus on the cell surface before lipidation and release of nascent high-density lipoprotein.

Wang S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

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

Sorrenson B et al.

Journal of Lipid Research, 2013

Anticancer activity of the cholesterol exporter ABCA1 gene.

Smith B et al.

Cell Reports, 2012

Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.

Tietjen I et al.

Biochimica Et Biophysica Acta, 2012

Nascent HDL formation in hepatocytes and role of ABCA1, ABCG1, and SR-BI.

Ji A et al.

Journal of Lipid Research, 2012

Adenosine-triphosphate-binding cassette transporter-1 trafficking and function.

Kang MH et al.

Trends in Cardiovascular Medicine, 2010

ABCA1 mutants reveal an interdependency between lipid export function, apoA-I binding activity, and Janus kinase 2 activation.

Vaughan AM et al.

Journal of Lipid Research, 2009

Formation of cholesterol-enriched structures by aberrant intracellular accumulation of ATP-binding cassette transporter A1.

Tanaka AR et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2008

The ABCA1 Q597R mutant undergoes trafficking from the ER upon ER stress.

Tanaka AR et al.

Biochemical and Biophysical Research Communications, 2008

Quantitative analysis of ABCA1-dependent compartmentalization and trafficking of apolipoprotein A-I: implications for determining cellular kinetics of nascent high density lipoprotein biogenesis.

Hassan HH et al.

The Journal of Biological Chemistry, 2008

Identification of an ABCA1-dependent phospholipid-rich plasma membrane apolipoprotein A-I binding site for nascent HDL formation: implications for current models of HDL biogenesis.

Hassan HH et al.

Journal of Lipid Research, 2007

Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.

Matsumura Y et al.

The Journal of Biological Chemistry, 2006

Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.

Singaraja RR et al.

Circulation Research, 2006

New insights into the biogenesis of human high-density lipoproteins.

Krimbou L et al.

Current Opinion in Lipidology, 2006

Role of apoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL.

Zannis VI et al.

Journal of Molecular Medicine (berlin, Germany), 2006

ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease.

Oram JF et al.

Physiological Reviews, 2005

Characterization of oligomeric human ATP binding cassette transporter A1. Potential implications for determining the structure of nascent high density lipoprotein particles.

Denis M et al.

The Journal of Biological Chemistry, 2004

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

Pisciotta L et al.

Atherosclerosis, 2004

Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release.

Ikeda Y et al.

Biochemical and Biophysical Research Communications, 2003

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.

Singaraja RR et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2003

Cellular phospholipid and cholesterol efflux in high-density lipoprotein deficiency.

Marcil M et al.

Circulation, 2003

Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis.

Tanaka AR et al.

The Journal of Biological Chemistry, 2003

Distinct sites on ABCA1 control distinct steps required for cellular release of phospholipids.

Rigot V et al.

Journal of Lipid Research, 2002

cAMP induces ABCA1 phosphorylation activity and promotes cholesterol efflux from fibroblasts.

Haidar B et al.

Journal of Lipid Research, 2002

Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.

Fitzgerald ML et al.

The Journal of Biological Chemistry, 2002

Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

Clee SM et al.

The Journal of Clinical Investigation, 2000

ABCA1 and nascent HDL biogenesis.

Wang S et al.

Biofactors (oxford, England), 0

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."