Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.R311C
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POLD1

NM_002691.4:p.R311C

Associated Papers

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Zhang H et al.

International Journal of Cancer, 2025

40844318 (PubMed )
Supplement: IJC-157-2532-s001.pdf

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

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.

Palles C et al.

Familial Cancer, 2022

33948826 (PubMed )
Supplement: 10689_2021_256_MOESM1_ESM.docx

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

Bappy MNI et al.

Genetics Research, 2022

Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.

Ying J et al.

Journal for Immunotherapy of Cancer, 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

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

Buchanan DD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29120461 (PubMed )
Supplement: NIHMS909759-supplement-Supplementary___Appendix__online_only_material__etc__.docx

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2015

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Church DN et al.

Human Molecular Genetics, 2013

23528559 (PubMed )
Supplement: supp_ddt131_ddt131supp.pdf
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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."