Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.R525W
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POLD1

NM_002691.4:p.R525W

Associated Papers

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

Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome.

Zhang Y et al.

Frontiers in Oncology, 2023

The potential, analysis and prospect of ctDNA sequencing in hepatocellular carcinoma.

Ding Y et al.

Peerj, 2022

35602894 (PubMed )
Supplement: peerj-10-13473-s003.xlsx › Supplemental_Table_2

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

Bappy MNI et al.

Genetics Research, 2022

POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.

Magrin L et al.

Oncogene, 2021

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

Role of POLE and POLD1 in familial cancer.

Mur P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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