Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.R219K
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ABCA1

NM_005502.4:p.R219K

Associated Papers

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

Zhang L et al.

Molecular Neurobiology, 2025

ABC Transporters, APOE, CYP46A1, and LRP1 Gene Polymorphisms as Markers of Dementia Development in Patients with Hyperlipidemia.

Machowska M et al.

International Journal of Molecular Sciences, 2025

An ABCA1 missense variant decreases cholesterol efflux and confers Alzheimer's disease risk in the Chinese population.

Liu SK et al.

Journal of Alzheimer's Disease : Jad, 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Genetic variants and type 2 diabetes in India: a systematic review and meta-analysis of associated polymorphisms in case-control studies.

Rathod L et al.

The Lancet Regional Health. Southeast Asia, 2025

39737336 (PubMed )
Supplement: mmc1.docx

Nutritional genomics in the Mexican population. An approach to prevent the development of obesity-associated metabolic diseases.

Aguilar-Salazar A et al.

Gaceta Medica De Mexico, 2025

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

The ABCA1 gene polymorphisms rs1800977 and rs2230806 are differentially associated with the risk for myocardial infarction in Slovenian subjects with type 2 diabetes mellitus.

Boh J et al.

Gene, 2024

A high-dimensional omnibus test for set-based association analysis.

Yang H et al.

Briefings in Bioinformatics, 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

Alzheimer's diseases in America, Europe, and Asian regions: a global genetic variation.

Hossain R et al.

Peerj, 2024

38756443 (PubMed )
Supplement: peerj-12-17339-s001.pdf

Effect of ABCA1-R219K Polymorphism in Serum Lipid Parameters in Patients under Statin Therapy Visiting Tertiary Cardiac Center of Nepal.

Ghimire S et al.

Journal of Laboratory Physicians, 2023

Cholesterol-rich dietary pattern during early pregnancy and genetic variations of cholesterol metabolism genes in predicting gestational diabetes mellitus: a nested case-control study.

Cui N et al.

The American Journal of Clinical Nutrition, 2023

Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.

Butnariu LI et al.

Diagnostics (basel, Switzerland), 2023

Lipid-Related Genetic Variants for Personalized Dietary Interventions: A Systematic Review.

Rivera-Íñiguez I et al.

Molecular Nutrition & Food Research, 2023

Pharmacogenomics of response to statin treatment and susceptibility to statin-induced adverse drug reactions in Asians: a scoping review.

Yow HY et al.

Asian Biomedicine : Research, Reviews and News, 2023

Association of ABCA1 R219K polymorphism and telomere length in a Chinese rural population: possible linking to systemic inflammation.

Liao S et al.

Journal of Genetics, 2023

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

Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.

Balcerzyk-Matić A et al.

Genes, 2022

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

Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.

Dagli-Hernandez C et al.

Pharmacological Reports : Pr, 2022

Evaluation of ABCA1 and FNDC3B Gene Polymorphisms Associated With Pseudoexfoliation Glaucoma and Primary Angle-Closure Glaucoma in a Saudi Cohort.

Kondkar AA et al.

Frontiers in Genetics, 2022

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

Association Between ABCA1 R219K Variant and Alzheimer's Disease: An Updated Meta-Analysis and Systematic Review.

Zhao J et al.

Current Alzheimer Research, 2022

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_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.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

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

Shi Z et al.

Scientific Reports, 2021

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

Younes S et al.

International Journal of Obesity (2005), 2021

Exome sequence association study of levels and longitudinal change of cardiovascular risk factor phenotypes in European Americans and African Americans from the Atherosclerosis Risk in Communities Study.

Feofanova EV et al.

Genetic Epidemiology, 2021

Common Genetic Variations Involved in the Inter-Individual Variability of Circulating Cholesterol Concentrations in Response to Diets: A Narrative Review of Recent Evidence.

Abdullah MMH et al.

Nutrients, 2021

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

DALIA- a comprehensive resource of Disease Alleles in Arab population.

Vatsyayan A et al.

Plos One, 2021

33439861 (PubMed )
Supplement: pone.0244567.s011.xlsx › Sheet1

Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity.

Bogari NM et al.

Disease Markers, 2021

A Common R219K Variant of ATP-Binding Cassette Transporter A1 Gene Alters Atherometabolic Traits in Pregnant Women With Gestational Diabetes Mellitus.

Tang F et al.

Frontiers in Endocrinology, 2021

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

Effects of ABCA1 gene polymorphisms on risk factors, susceptibility and severity of coronary artery disease.

Lu Z et al.

Postgraduate Medical Journal, 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

ABCA1 Polymorphism Is Associated With the Warfarin-Induced Aortic Stiffness After Coronary Artery Bypass Surgery in the Chinese Population.

Liao S et al.

Journal of Cardiovascular Pharmacology, 2020

Association of genetic variants of ABCA1 with susceptibility to dementia: (SADEM study).

Teresa JC et al.

Metabolic Brain Disease, 2020

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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."