Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.V477M
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POLD1

NM_002691.4:p.V477M

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors.

Ostroverkhova D et al.

Cell Reports, 2024

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

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_6

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Zaidi SH et al.

Nature Communications, 2020

Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair.

Haradhvala NJ et al.

Nature Communications, 2018

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

Jansen AM et al.

European Journal of Human Genetics : Ejhg, 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."