Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.R506H
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POLD1

NM_002691.4:p.R506H

Associated Papers

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

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_S2.xlsx › Colorectal_CHASM_p-values

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

Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.

Bappy MNI et al.

Genetics Research, 2022

DNA polymerase delta Exo domain stabilizes mononucleotide microsatellites in human cells.

Shioi S et al.

Dna Repair, 2021

The POLD1R689W variant increases the sensitivity of colorectal cancer cells to ATR and CHK1 inhibitors.

Job A et al.

Scientific Reports, 2020

Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase δ mutation in human cells.

Mertz TM et al.

Oncogene, 2017

Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.

Barbari SR et al.

Dna Repair, 2017

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.

Nicolas E et al.

Gene, 2016

Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer.

Yoshida R et al.

European Journal of Human Genetics : Ejhg, 2011

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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."