Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.E288K
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POLB

NM_002690.3:p.E288K

Associated Papers

The S180R Human Germline Variant of DNA Polymerase β Is a Low Fidelity Enzyme with Reduced Flexibility of the Fingers Domain.

Sawyer DL et al.

Biochemistry, 2026

The Link Between Human Alkyladenine DNA Glycosylase and Cancer Development.

Kladova OA et al.

International Journal of Molecular Sciences, 2025

Mutagenic ligation of polβ mismatch insertion products during 8-oxoG bypass by LIG1 and LIG3α at the downstream steps of base excision repair pathway.

Lee KM et al.

Biorxiv : the Preprint Server for Biology, 2024

SNP-Associated Substitutions of Amino Acid Residues in the dNTP Selection Subdomain Decrease Polβ Polymerase Activity.

Kladova OA et al.

Biomolecules, 2024

Unfilled gaps by polβ lead to aberrant ligation by LIG1 at the downstream steps of base excision repair pathway.

Gulkis M et al.

Nucleic Acids Research, 2024

Melanoma-derived DNA polymerase theta variants exhibit altered DNA polymerase activity.

Thomas C et al.

Biorxiv : the Preprint Server for Biology, 2023

The Role of Natural Polymorphic Variants of DNA Polymerase β in DNA Repair.

Kladova OA et al.

International Journal of Molecular Sciences, 2022

DNA Polymerase β in the Context of Cancer.

Sawyer DL et al.

Critical Reviews in Oncogenesis, 2022

Using single-molecule FRET to probe the nucleotide-dependent conformational landscape of polymerase β-DNA complexes.

Fijen C et al.

The Journal of Biological Chemistry, 2020

Revealing an Internal Stabilization Deficiency in the DNA Polymerase β K289M Cancer Variant through the Combined Use of Chemical Biology and X-ray Crystallography.

Batra VK et al.

Biochemistry, 2020

Defective Nucleotide Release by DNA Polymerase β Mutator Variant E288K Is the Basis of Its Low Fidelity.

Mahmoud MM et al.

Biochemistry, 2017

Fluorescence resonance energy transfer studies of DNA polymerase β: the critical role of fingers domain movements and a novel non-covalent step during nucleotide selection.

Towle-Weicksel JB et al.

The Journal of Biological Chemistry, 2014

Cellular roles of DNA polymerase beta.

Ray S et al.

The Yale Journal of Biology and Medicine, 2013

Catalytic effects of mutations of distant protein residues in human DNA polymerase β: theory and experiment.

Klvaňa M et al.

Biochemistry, 2012

The E288K colon tumor variant of DNA polymerase β is a sequence specific mutator.

Murphy DL et al.

Biochemistry, 2012

Genome instability caused by a germline mutation in the human DNA repair gene POLB.

Sobol RW

Plos Genetics, 2012

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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."