Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.S461T
Back to variants list

POLE

NM_006231.4:p.S461T

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

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.

Viana-Errasti J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Genetics, genomics and clinical features of adenomatous polyposis.

Joo JE et al.

Familial Cancer, 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

Deep learning for dual detection of microsatellite instability and POLE mutations in colorectal cancer histopathology.

Gustav M et al.

Npj Precision Oncology, 2024

38783059 (PubMed )
Supplement: 41698_2024_592_MOESM1_ESM.pdf

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

Mur P et al.

Genome Medicine, 2023

Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.

Stoltze UK et al.

Neuro-oncology, 2023

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

Sehested A et al.

Human Mutation, 2022

Comprehensive immunomolecular profiling of endometrial carcinoma: A tertiary retrospective study.

Victoor J et al.

Gynecologic Oncology, 2021

Mismatch Repair Deficiency in Ovarian Carcinoma: Frequency, Causes, and Consequences.

Leskela S et al.

The American Journal of Surgical Pathology, 2020

Immunogenomic profiles associated with response to neoadjuvant chemoradiotherapy in patients with rectal cancer.

Akiyoshi T et al.

The British Journal of Surgery, 2019

POLE proofreading defects: Contributions to mutagenesis and cancer.

Park VS et al.

Dna Repair, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."