Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.I260M
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POLB

NM_002690.3:p.I260M

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

Collapsed State Mediates the Low Fidelity of the DNA Polymerase β I260 Mutant.

Fijen C et al.

Biochemistry, 2024

DNA Polymerase β in the Context of Cancer.

Sawyer DL et al.

Critical Reviews in Oncogenesis, 2022

Two polymorphic mutations in promoter region of DNA polymerase β in relatively higher percentage of thymic hyperplasia patients.

Wu Q et al.

Thoracic Cancer, 2021

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

DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging.

Tiwari V et al.

American Journal of Human Genetics, 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 β Cancer-Associated Variant I260M Exhibits Nonspecific Selectivity toward the β-γ Bridging Group of the Incoming dNTP.

Alnajjar KS et al.

Biochemistry, 2017

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

DNA polymerase β deficiency is linked to aggressive breast cancer: a comprehensive analysis of gene copy number, mRNA and protein expression in multiple cohorts.

Abdel-Fatah TM et al.

Molecular Oncology, 2014

Cellular roles of DNA polymerase beta.

Ray S et al.

The Yale Journal of Biology and Medicine, 2013

Understanding the loss-of-function in a triple missense mutant of DNA polymerase β found in prostate cancer.

An C et al.

International Journal of Oncology, 2013

Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation.

Galick HA et al.

Proceedings of the National Academy of Sciences of the United States of America, 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 beta promoter mutations affect gene transcription, translation and the sensitivity of esophageal cancer cells to cisplatin treatment.

Wang T et al.

Molecular Biology Reports, 2013

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

Klvaňa M et al.

Biochemistry, 2012

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

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

Murphy DL et al.

Biochemistry, 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

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

Translesion DNA polymerases and cancer.

Makridakis NM et al.

Frontiers in 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

Hinge residue I174 is critical for proper dNTP selection by DNA polymerase beta.

Yamtich J et al.

Biochemistry, 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

Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.

Terrados G et al.

Plos One, 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

DNA polymerases and human diseases.

Sweasy JB et al.

Radiation Research, 2006

Base excision repair fidelity in normal and cancer cells.

Chan KK et al.

Mutagenesis, 2006

Is base excision repair a tumor suppressor mechanism?

Sweasy JB et al.

Cell Cycle (georgetown, Tex.), 2006

Prostate-cancer-associated I260M variant of DNA polymerase beta is a sequence-specific mutator.

Dalal S et al.

Biochemistry, 2005

Expression of DNA polymerase {beta} cancer-associated variants in mouse cells results in cellular transformation.

Sweasy JB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

Is there a link between DNA polymerase beta and cancer?

Starcevic D et al.

Cell Cycle (georgetown, Tex.), 2004

[DNA polymerases beta and lambda, and their roles in the DNA replication and repair].

Belousova EA et al.

Molekuliarnaia Biologiia, 0

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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."