Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.C319Y
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POLD1

NM_002691.4:p.C319Y

Associated Papers

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

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Weber CAM et al.

Acta Neuropathologica Communications, 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

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

A panoply of errors: polymerase proofreading domain mutations in cancer.

Rayner E et al.

Nature Reviews. Cancer, 2016

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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."