Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.Y265C
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POLB

NM_002690.3:p.Y265C

Associated Papers

Genome Instability and Somatic Mutagenesis in Autoimmune Diseases.

Vijayraghavan S et al.

Cancers, 2026

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

Mouse models to explore the biological and organismic role of DNA polymerase beta.

Sobol RW

Environmental and Molecular Mutagenesis, 2024

The hematopoietic compartment is sufficient for lupus development resulting from the POLB-Y265C mutation.

Rahim T et al.

Plos One, 2022

DNA Polymerase β in the Context of Cancer.

Sawyer DL et al.

Critical Reviews in Oncogenesis, 2022

DNA glycosylase deficiency leads to decreased severity of lupus in the Polb-Y265C mouse model.

Paluri SL et al.

Dna Repair, 2021

Trinucleotide repeat instability via DNA base excision repair.

Lai Y et al.

Dna Repair, 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

Base Excision Repair in the Immune System: Small DNA Lesions With Big Consequences.

Stratigopoulou M et al.

Frontiers in Immunology, 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

DNA polymerase beta participates in DNA End-joining.

Ray S et al.

Nucleic Acids Research, 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

Genome Stability by DNA Polymerase β in Neural Progenitors Contributes to Neuronal Differentiation in Cortical Development.

Onishi K et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

DNA repair and systemic lupus erythematosus.

Meas R et al.

Dna Repair, 2017

Base excision repair of oxidative DNA damage: from mechanism to disease.

Whitaker AM et al.

Frontiers in Bioscience (landmark Edition), 2017

Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population.

Li P et al.

Chinese Medical Journal, 2016

Mutation of DNA Polymerase β R137Q Results in Retarded Embryo Development Due to Impaired DNA Base Excision Repair in Mice.

Pan F et al.

Scientific Reports, 2016

Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population.

Li Y et al.

Plos One, 2015

Mutation of POLB causes lupus in mice.

Senejani AG et al.

Cell Reports, 2014

Cellular roles of DNA polymerase beta.

Ray S et al.

The Yale Journal of Biology and Medicine, 2013

Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates.

Senejani AG et al.

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

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

Sobol RW

Plos Genetics, 2012

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

Dalal S et al.

Nucleic Acids Research, 2008

DNA polymerases and human diseases.

Sweasy JB et al.

Radiation Research, 2006

[Study on DNA polymerase beta gene mutation in human cervical cancer].

Han LP et al.

Zhonghua Fu Chan Ke Za Zhi, 2003

Y265H mutator mutant of DNA polymerase beta. Proper teometric alignment is critical for fidelity.

Shah AM et al.

The Journal of Biological Chemistry, 2001

Minor groove interactions at the DNA polymerase beta active site modulate single-base deletion error rates.

Osheroff WP et al.

The Journal of Biological Chemistry, 2000

Structural design of a eukaryotic DNA repair polymerase: DNA polymerase beta.

Beard WA et al.

Mutation Research, 2000

The Tyr-265-to-Cys mutator mutant of DNA polymerase beta induces a mutator phenotype in mouse LN12 cells.

Clairmont CA et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

Involvement of phenylalanine 272 of DNA polymerase beta in discriminating between correct and incorrect deoxynucleoside triphosphates.

Li SX et al.

Biochemistry, 1999

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