Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.D275G
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POLE

NM_006231.4:p.D275G

Associated Papers

Phenotypic POLE Variant Classification Identifies Patients Who May Have Favorable Prognosis and Benefit from Immunotherapy.

Keller-Evans RB et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S1.xlsx › S1A_COSMIC_mutation

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.

Weijers DD et al.

Nature Communications, 2025

40368937 (PubMed )
Supplement: 41467_2025_59775_MOESM1_ESM.pdf

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

Tomkova M et al.

Nature Genetics, 2024

39390083 (PubMed )
Supplement: 41588_2024_1945_MOESM4_ESM.xlsx › Table6

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Chen YX et al.

Clinical and Translational Medicine, 2021

34586735 (PubMed )
Supplement: CTM2-11-e524-s001.xlsx › Supplementary_Table_2

Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.

Hu H et al.

Cancer Medicine, 2021

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Fang H et al.

Plos Genetics, 2020

32012149 (PubMed )
Supplement: pgen.1008572.s019.xlsx › Supplementary_table_10

Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.

Xu T et al.

Frontiers in Oncology, 2020

POLE proofreading defects: Contributions to mutagenesis and cancer.

Park VS et al.

Dna Repair, 2019

Polymerase epsilon mutations and concomitant β2-microglobulin mutations in cancer.

Voutsadakis IA

Gene, 2018

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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."