Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.E295K
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POLB

NM_002690.3:p.E295K

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

Single-molecule analysis of gap and nick binding by LIG1 and LIG3α at the final step of DNA repair.

Chatterjee S et al.

Biorxiv : the Preprint Server for Biology, 2025

Correct Nucleotide Selection Is Confined at the Binding Site of Polymerase Enzymes.

Figueroa Blanco DR et al.

Journal of Chemical Information and Modeling, 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

Defective DNA polymerase beta invoke a cytosolic DNA mediated inflammatory response.

Zhao S et al.

Frontiers in Immunology, 2022

36624848 (PubMed )
Supplement: DataSheet_1.pdf

DNA Polymerase β in the Context of Cancer.

Sawyer DL et al.

Critical Reviews in Oncogenesis, 2022

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

The Pol β variant containing exon α is deficient in DNA polymerase but has full dRP lyase activity.

Dai DP et al.

Scientific Reports, 2019

Detection of Somatic Mutation in Exon 12 of DNA Polymerase β in Ovarian Cancer Tissue Samples

Khanra K et al.

Iranian Biomedical Journal, 2018

DNA Polymerase Beta Germline Variant Confers Cellular Response to Cisplatin Therapy.

Nemec AA et al.

Molecular Cancer Research : Mcr, 2017

R152C DNA Pol β mutation impairs base excision repair and induces cellular transformation.

Zhou T et al.

Oncotarget, 2016

HeLa Cells Containing a Truncated Form of DNA Polymerase Beta are More Sensitized to Alkylating Agents than to Agents Inducing Oxidative Stress.

Khanra K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Substrate-induced DNA polymerase β activation.

Beard WA et al.

The Journal of Biological Chemistry, 2014

The S229L colon tumor-associated variant of DNA polymerase β induces cellular transformation as a result of decreased polymerization efficiency.

Nemec AA et al.

The Journal of Biological Chemistry, 2014

Substrate rescue of DNA polymerase β containing a catastrophic L22P mutation.

Kirby TW et al.

Biochemistry, 2014

Cellular roles of DNA polymerase beta.

Ray S et al.

The Yale Journal of Biology and Medicine, 2013

The E295K cancer variant of human polymerase β favors the mismatch conformational pathway during nucleotide selection.

Eckenroth BE et al.

The Journal of Biological Chemistry, 2013

Structural changes in the hydrophobic hinge region adversely affect the activity and fidelity of the I260Q mutator DNA polymerase β.

Gridley CL et al.

Biochemistry, 2013

DNA polymerase β variant Ile260Met generates global gene expression changes related to cellular transformation.

Donigan KA et al.

Mutagenesis, 2012

[Mechanism of DNA polymerase beta hyper-expression in malignant transformation induced by benzo[a] pyrene].

Zhao W et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2012

Colon cancer-associated DNA polymerase β variant induces genomic instability and cellular transformation.

Nemec AA et al.

The Journal of Biological Chemistry, 2012

Human POLB gene is mutated in high percentage of colorectal tumors.

Donigan KA et al.

The Journal of Biological Chemistry, 2012

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

Murphy DL et al.

Biochemistry, 2012

Unfavorable electrostatic and steric interactions in DNA polymerase β E295K mutant interfere with the enzyme's pathway.

Li Y et al.

Journal of the American Chemical Society, 2012

Deregulated expression of DNA polymerase β is involved in the progression of genomic instability.

Luo Q et al.

Environmental and Molecular Mutagenesis, 2012

The human gastric cancer-associated DNA polymerase β variant D160N is a mutator that induces cellular transformation.

Donigan KA et al.

Dna Repair, 2012

Metal-induced DNA translocation leads to DNA polymerase conformational activation.

Kirby TW et al.

Nucleic Acids Research, 2012

Association of two polymorphisms of DNA polymerase beta in exon-9 and exon-11 with ovarian carcinoma in India.

Khanra K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

Association of a newly identified variant of DNA polymerase beta (polβΔ63-123, 208-304) with the risk factor of ovarian carcinoma in India.

Khanra K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

A germline polymorphism of DNA polymerase beta induces genomic instability and cellular transformation.

Yamtich J et al.

Plos Genetics, 2012

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

Sobol RW

Plos Genetics, 2012

Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic function.

An CL et al.

Human Mutation, 2011

Targeted radiosensitization of cells expressing truncated DNA polymerase {beta}.

Neijenhuis S et al.

Cancer Research, 2010

A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instability.

Daee DL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Potentiation of temozolomide cytotoxicity by inhibition of DNA polymerase beta is accentuated by BRCA2 mutation.

Stachelek GC et al.

Cancer Research, 2010

Characterization of DNA polymerase beta splicing variants in gastric cancer: the most frequent exon 2-deleted isoform is a non-coding RNA.

Simonelli V et al.

Mutation Research, 2009

The Leu22Pro tumor-associated variant of DNA polymerase beta is dRP lyase deficient.

Dalal S et al.

Nucleic Acids Research, 2008

The E295K DNA polymerase beta gastric cancer-associated variant interferes with base excision repair and induces cellular transformation.

Lang T et al.

Molecular and Cellular Biology, 2007

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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."