Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.A463V
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POLE

NM_006231.4:p.A463V

Associated Papers

Next-generation sequencing outperforms Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in endometrial cancer molecular classification.

Yoshimura T et al.

Bjc Reports, 2025

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

Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer.

Ambrosini M et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2024

PD-1 Blockade in Solid Tumors with Defects in Polymerase Epsilon.

Rousseau B et al.

Cancer Discovery, 2022

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

33477564 (PubMed )
Supplement: ijms-22-00911-s001.zip › Updated_Supplementary_Tables_011721 › Supplementary_Table_S1_final_version.xlsx › MGS

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

Petljak M et al.

Cell, 2019

30849372 (PubMed )
Supplement: mmc4.xlsx › Coding_mutations
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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."