Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.V825I
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ABCA1

NM_005502.4:p.V825I

Associated Papers

ATP-binding cassette transporter G1 (ABCG1) polymorphisms in pregnant women with gestational diabetes mellitus.

Liu S et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023

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

Rivera-Íñiguez I et al.

Molecular Nutrition & Food Research, 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

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S8.xls › human_ben_mouse_unk_orthovar_14

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: 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

The ABCs of Sterol Transport.

Plummer AM et al.

Annual Review of Physiology, 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

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

Elucidating the Structural Features of ABCA1 in its Heterogeneous Membrane Environment.

Sunidhi S et al.

Frontiers in Molecular Biosciences, 2021

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.

Koyama S et al.

Nature Genetics, 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

Common gene polymorphism in ATP-binding cassette transporter A1 and coronary artery disease: A genetic association study and a structural analysis.

Karimian M et al.

Journal of Cellular Biochemistry, 2020

Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Howard AD et al.

Plos One, 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

Accelerated Atherogenicity in Tangier Disease.

Muratsu J et al.

Journal of Atherosclerosis and Thrombosis, 2018

The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis.

Au A et al.

Atherosclerosis, 2017

Chromosome 9p21 and ABCA1 Genetic Variants and Their Interactions on Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population.

Cao XL et al.

International Journal of Molecular Sciences, 2016

The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians.

Cyrus C et al.

Human Genomics, 2016

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

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-A2-A04Y-01A.domain

Identification and characterization of a defective CYP3A4 genotype in a kidney transplant patient with severely diminished tacrolimus clearance.

Werk AN et al.

Clinical Pharmacology and Therapeutics, 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

Influence of ATP-binding cassette transporter 1 R219K and M883I polymorphisms on development of atherosclerosis: a meta-analysis of 58 studies.

Yin YW et al.

Plos One, 2014

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf

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

Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Wu Y et al.

Plos Genetics, 2013

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

Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels.

Yin RX et al.

Cardiovascular Diabetology, 2012

The polymorphism of the ATP-binding cassette transporter 1 gene modulates Alzheimer disease risk in Chinese Han ethnic population.

Sun YM et al.

The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry, 2012

Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.

Yin RX et al.

International Journal of Molecular Sciences, 2012

The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.

Villarreal-Molina T et al.

Plos One, 2012

The non-synonymous Arg230Cys variant (R230C) of the ATP-binding cassette transporter A1 is associated with low HDL cholesterol concentrations in Mexican adults: a population based nation wide study.

Aguilar-Salinas CA et al.

Atherosclerosis, 2011

Genetic variant of V825I in the ATP-binding cassette transporter A1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Cao XL et al.

Lipids in Health and Disease, 2011

Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Wakai K et al.

Journal of Epidemiology, 2011

Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol.

Berge KE et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Associations between common polymorphisms of adenosine triphosphate-binding cassette transporter A1 and coronary artery disease in a Tunisian population.

Rejeb J et al.

Archives of Cardiovascular Diseases, 2010

A CETP polymorphism improves the diagnostic power of clinical examination in patients with cardiovascular disease.

Erzberger P et al.

Swiss Medical Weekly, 2010

The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population.

Wang N et al.

Neurobiology of Aging, 2010

Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.

Frikke-Schmidt R

Atherosclerosis, 2010

TGF-beta1-800G>A polymorphism and cerebral infarction in Chinese Han population.

Xie Y et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2009

Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Boes E et al.

Experimental Gerontology, 2009

[Association of ATP-binding cassette transporter A1 R219K polymorphism with atrial fibrillation].

Chen LC et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2009

Effect of ABCA1 mutations on risk for myocardial infarction.

Iatan I et al.

Current Atherosclerosis Reports, 2008

Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels.

Slatter TL et al.

Clinical Genetics, 2008

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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."