Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.R306C
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POLD1

NM_002691.4:p.R306C

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

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

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

Ostroverkhova D et al.

Cell Reports, 2024

38219146 (PubMed )
Supplement: NIHMS1961519-supplement-11.xlsx › Table_S2

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

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

Haradhvala NJ et al.

Nature Communications, 2018

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