Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.C65S
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APEX1

NM_001641.4:p.C65S

Associated Papers

Glutathionylated DNA adducts accumulate in mitochondrial DNA and are regulated by AP endonuclease 1 and tyrosyl-DNA phosphodiesterase 1.

Chen YH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

The DNA-repair protein APE1 participates with hnRNPA2B1 to motif-enriched and prognostic miRNA secretion.

Mangiapane G et al.

Oncogene, 2024

DNA Repair Protein APE1 Degrades Dysfunctional Abasic mRNA in Mitochondria Affecting Oxidative Phosphorylation.

Barchiesi A et al.

Journal of Molecular Biology, 2021

Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism.

Antoniali G et al.

Nature Communications, 2017

Ape1 guides DNA repair pathway choice that is associated with drug tolerance in glioblastoma.

Ströbel T et al.

Scientific Reports, 2017

Functional variants of human APE1 rescue the DNA repair defects of the yeast AP endonuclease/3'-diesterase-deficient strain.

Wang Z et al.

Dna Repair, 2014

Human apurinic/apyrimidinic endonuclease 1.

Li M et al.

Antioxidants & Redox Signaling, 2014

Knock-in reconstitution studies reveal an unexpected role of Cys-65 in regulating APE1/Ref-1 subcellular trafficking and function.

Vascotto C et al.

Molecular Biology of the Cell, 2011

Unusual role of a cysteine residue in substrate binding and activity of human AP-endonuclease 1.

Mantha AK et al.

Journal of Molecular Biology, 2008

Mutational analysis of human thioredoxin reductase 1. Effects on p53-mediated gene expression and interferon and retinoic acid-induced cell death.

Ma X et al.

The Journal of Biological Chemistry, 2002

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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."