Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R219K
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ABCA4

NM_000350.3:p.R219K

Associated Papers

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

Dual Regulatory Mechanisms of Expression and Mutation Involving Metabolism-Related Genes FDFT1 and UQCR5 during CLM.

Ma YS et al.

Molecular Therapy Oncolytics, 2019

31236441 (PubMed )
Supplement: mmc1.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

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

Frikke-Schmidt R et al.

The Journal of Clinical Investigation, 2004

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

Singaraja RR et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2003

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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."