Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.D210N
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APEX1

NM_001641.4:p.D210N

Associated Papers

Human MutLα activates methylpurine DNA glycosylase to induce alkylation damage cytotoxicity.

Ashour ME et al.

Biorxiv : the Preprint Server for Biology, 2025

The phosphorylated trimeric SOSS1 complex and RNA polymerase II trigger liquid-liquid phase separation at double-strand breaks.

Long Q et al.

Cell Reports, 2023

Pre-steady-state kinetic and mutational insights into mechanisms of endo- and exonuclease DNA processing by mutant forms of human AP endonuclease.

Bakman AS et al.

Biochimica Et Biophysica Acta. General Subjects, 2022

Structural basis for APE1 processing DNA damage in the nucleosome.

Weaver TM et al.

Nature Communications, 2022

The role of active-site amino acid residues in the cleavage of DNA and RNA substrates by human apurinic/apyrimidinic endonuclease APE1.

Alekseeva IV et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

Functions of the major abasic endonuclease (APE1) in cell viability and genotoxin resistance.

McNeill DR et al.

Mutagenesis, 2020

Lamin A/C promotes DNA base excision repair.

Maynard S et al.

Nucleic Acids Research, 2019

Damage sensor role of UV-DDB during base excision repair.

Jang S et al.

Nature Structural & Molecular Biology, 2019

Structural basis for recognition and repair of the 3'-phosphate by NExo, a base excision DNA repair nuclease from Neisseria meningitidis.

Silhan J et al.

Nucleic Acids Research, 2018

The role of the N-terminal domain of human apurinic/apyrimidinic endonuclease 1, APE1, in DNA glycosylase stimulation.

Kladova OA et al.

Dna Repair, 2018

Human apurinic/apyrimidinic endonuclease 1 (APE1) has 3' RNA phosphatase and 3' exoribonuclease activities.

Chohan M et al.

Journal of Molecular Biology, 2015

Human apurinic/apyrimidinic endonuclease 1.

Li M et al.

Antioxidants & Redox Signaling, 2014

Conserved structural chemistry for incision activity in structurally non-homologous apurinic/apyrimidinic endonuclease APE1 and endonuclease IV DNA repair enzymes.

Tsutakawa SE et al.

The Journal of Biological Chemistry, 2013

MD simulation and experimental evidence for Mg²+ binding at the B site in human AP endonuclease 1.

Oezguen N et al.

Bioinformation, 2011

Characterization of Mg2+ binding to the DNA repair protein apurinic/apyrimidic endonuclease 1 via solid-state 25Mg NMR spectroscopy.

Lipton AS et al.

Journal of the American Chemical Society, 2008

A dominant-negative form of the major human abasic endonuclease enhances cellular sensitivity to laboratory and clinical DNA-damaging agents.

McNeill DR et al.

Molecular Cancer Research : Mcr, 2007

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function.

Xi T et al.

Genomics, 2004

Substitution of Asp-210 in HAP1 (APE/Ref-1) eliminates endonuclease activity but stabilises substrate binding.

Rothwell DG et al.

Nucleic Acids Research, 2000

Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans.

Shen MR et al.

Cancer Research, 1998

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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."