Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.I883M
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ABCA1

NM_005502.4:p.I883M

Associated Papers

Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Alzheimer's Disease: Recent Advances and Controversies.

Zhang L et al.

Molecular Neurobiology, 2025

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

Identification and Molecular Simulation of Genetic Variants in ABCA1 Gene Associated with Susceptibility to Dyslipidemia in Type 2 Diabetes.

Majeed A et al.

International Journal of Molecular Sciences, 2024

Emerging Role of ABC Transporters in Glia Cells in Health and Diseases of the Central Nervous System.

Villa M et al.

Cells, 2024

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

Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.

Boukhalfa W et al.

Frontiers in Aging Neuroscience, 2023

37342358 (PubMed )
Supplement: Table_2.XLSX › Table_2_SNPnexus_annotation

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Role of ABCA1 in Cardiovascular Disease.

Wang J et al.

Journal of Personalized Medicine, 2022

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Liu YX et al.

Frontiers in Cardiovascular Medicine, 2022

36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Rozhkova AV et al.

Journal of Cardiovascular Development and Disease, 2021

Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Martín-Campos JM

Biomedicines, 2021

34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf

Association between the ABCA1 (R219K) polymorphism and lipid profiles: a meta-analysis.

Shi Z et al.

Scientific Reports, 2021

34741058 (PubMed )
Supplement: 41598_2021_961_MOESM1_ESM.pdf

Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

Younes S et al.

International Journal of Obesity (2005), 2021

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

The ABCs of Sterol Transport.

Plummer AM et al.

Annual Review of Physiology, 2021

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

Jacobo-Albavera L et al.

International Journal of Molecular Sciences, 2021

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Identification and characterization of a rare variant in apolipoprotein A-IV, p.(V336M), and evaluation of HDL functionality in a Greek cohort with extreme HDL cholesterol levels.

Chroni A et al.

Archives of Biochemistry and Biophysics, 2020

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

Pharmacogene Variation in Thai Plasmodium vivax Relapse Patients Treated with a Combination of Primaquine and Chloroquine.

Chamnanphon M et al.

Pharmacogenomics and Personalized Medicine, 2020

ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.

Wang F et al.

Journal of Clinical Laboratory Analysis, 2019

Proprotein Convertase Subtilisin/Kexin Type 9, Brain Cholesterol Homeostasis and Potential Implication for Alzheimer's Disease.

Adorni MP et al.

Frontiers in Aging Neuroscience, 2019

ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

López-Fernández LA

Journal of Personalized Medicine, 2018

30563187 (PubMed )
Supplement: jpm-08-00040-s001.xlsx › Hoja1

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS et al.

Journal of Lipid Research, 2018

Differential Gene Expression in Macrophages From Human Atherosclerotic Plaques Shows Convergence on Pathways Implicated by Genome-Wide Association Study Risk Variants.

Chai JT et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2018

30354237 (PubMed )
Supplement: atv-38-2718-s002.pdf

Associations of the ABCA1 and LPL Gene Polymorphisms With Lipid Levels in a Hyperlipidemic Population.

Tao F et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

The transcriptional and mutational landscapes of lipid metabolism-related genes in colon cancer.

Fernández LP et al.

Oncotarget, 2018

The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.

Steinhagen-Thiessen E et al.

Atherosclerosis, 2017

Effect of ATP-binding Cassette Transporter A1 (ABCA1) Gene Polymorphisms on Plasma Lipid Variables and Common Demographic Parameters in Greek Nurses.

Kolovou V et al.

The Open Cardiovascular Medicine Journal, 2016

Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents.

Fawzy MS et al.

Molecular Diagnosis & Therapy, 2015

The R219K polymorphism on ATP-binding cassette transporter A1 gene is associated with coronary heart disease risk in Asia population: evidence from a meta-analysis.

Liu N et al.

Cell Biochemistry and Biophysics, 2015

ATP-binding cassette transporter 1 C69T and V825I polymorphisms in the development of atherosclerosis: a meta-analysis of 18,320 subjects.

Yin YW et al.

Thrombosis Research, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06O-01A.domain

ATP-binding cassette transporter A1: from metabolism to neurodegeneration.

Koldamova R et al.

Neurobiology of Disease, 2014

The role of ABCA1 gene sequence variants on risk of Alzheimer's disease.

Lupton MK et al.

Journal of Alzheimer's Disease : Jad, 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

Impact of 3 Common ABCA1 Gene Polymorphisms on Optimal vs Non-Optimal Lipid Profile in Greek Young Nurses.

Marvaki A et al.

The Open Cardiovascular Medicine Journal, 2014

Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Song C et al.

Plos One, 2013

Meta-analysis on association between the ATP-binding cassette transporter A1 gene (ABCA1) and Alzheimer's disease.

Jiang M et al.

Gene, 2012

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
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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."