Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.M233V
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ABCA1

NM_005502.4:p.M233V

Associated Papers

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

Role of ABCA1 in Cardiovascular Disease.

Wang J et al.

Journal of Personalized Medicine, 2022

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

Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction.

Xue XH et al.

Dementia and Geriatric Cognitive Disorders, 2008

[A novel polymorphism in the ATP-binding cassette transporter A1 gene (M233V) in Chinese patients with coronary artery disease].

Guo ZG et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2006

[Detection of single nucleotide polymorphism of all coding regions in ABCA1 gene in patients with coronary heart disease].

Wang QG et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2006

[Significance of -191G/C single nucleotide polymorphisms in the promoter region of ATP-binding cassette transporter gene in coronary artery disease].

Liu L et al.

Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2005

[Distribution of -477C/T single nucleotide polymorphism in the promoter region of ABCA1 gene and its significance for plasma lipids levels in normal Chinese Han population].

Liu SL et al.

Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2004

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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."