Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.E277A
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POLE

NM_006231.4:p.E277A

Associated Papers

The proofreading mechanism of the human leading-strand DNA polymerase ε holoenzyme.

Wang F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40440070 (PubMed )
Supplement: pnas.2507232122.sapp.pdf

The proofreading mechanism of the human leading strand DNA polymerase ε holoenzyme.

Wang F et al.

Biorxiv : the Preprint Server for Biology, 2025

40291687 (PubMed )
Supplement: NIHPP2025.04.11.648458V1-supplement-1.pdf

Structural basis for processive daughter-strand synthesis and proofreading by the human leading-strand DNA polymerase Pol ε.

Roske JJ et al.

Nature Structural & Molecular Biology, 2024

Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.

Tomkova M et al.

Nature Genetics, 2024

Structures of the human leading strand Polε-PCNA holoenzyme.

He Q et al.

Nature Communications, 2024

A simple bypass assay for DNA polymerases shows that cancer-associated hypermutating variants exhibit differences in vitro.

Crevel G et al.

The Febs Journal, 2023

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Mur P et al.

Genome Medicine, 2023

37848928 (PubMed )
Supplement: 13073_2023_1234_MOESM3_ESM.xlsx › Table_S3

The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity.

Labrousse G et al.

Nar Cancer, 2023

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.

Rocque MJ et al.

Molecular Genetics and Genomics : Mgg, 2023

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Galati MA et al.

Cancer Research, 2020

POLE Mutation Spectra Are Shaped by the Mutant Allele Identity, Its Abundance, and Mismatch Repair Status.

Hodel KP et al.

Molecular Cell, 2020

POLE proofreading defects: Contributions to mutagenesis and cancer.

Park VS et al.

Dna Repair, 2019

Adjuvant Treatment for POLE Proofreading Domain-Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues.

Van Gool IC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair.

Hodel KP et al.

Elife, 2018

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.

Shinbrot E et al.

Genome Research, 2014

DNA polymerase ε and its roles in genome stability.

Henninger EE et al.

Iubmb Life, 2014

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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."