Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.K289M
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POLB

NM_002690.3:p.K289M

Associated Papers

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

Kladova OA et al.

Biomolecules, 2024

The function of BCL11B in base excision repair contributes to its dual role as an oncogene and a haplo-insufficient tumor suppressor gene.

Vickridge E et al.

Nucleic Acids Research, 2024

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

Evolving insights: how DNA repair pathways impact cancer evolution.

Zhou J et al.

Cancer Biology & Medicine, 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

A pre-catalytic non-covalent step governs DNA polymerase β fidelity.

Alnajjar KS et al.

Nucleic Acids Research, 2019

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

A Change in the Rate-Determining Step of Polymerization by the K289M DNA Polymerase β Cancer-Associated Variant.

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

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

Klvaňa M et al.

Biochemistry, 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

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

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

Population-specific variation in haplotype composition and heterozygosity at the POLB locus.

Yamtich J et al.

Dna Repair, 2009

The Asp285 variant of DNA polymerase beta extends mispaired primer termini via increased nucleotide binding.

Murphy DL et al.

Biochemistry, 2008

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

Polymorphisms of the DNA polymerase beta gene in breast cancer.

Sliwinski T et al.

Breast Cancer Research and Treatment, 2007

DNA polymerases and human diseases.

Sweasy JB et al.

Radiation Research, 2006

Is base excision repair a tumor suppressor mechanism?

Sweasy JB et al.

Cell Cycle (georgetown, Tex.), 2006

Genetic instability in cancer: theory and experiment.

Beckman RA et al.

Seminars in Cancer Biology, 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

A DNA polymerase beta mutant from colon cancer cells induces mutations.

Lang T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

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