Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.A127T
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POLD1

NM_002691.4:p.A127T

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

PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.

Tsarin L et al.

Database : the Journal of Biological Databases and Curation, 2025

41263451 (PubMed )
Supplement: baaf076_supplemental_files.zip › Supplementary_Table_S2.xlsx › Table_S4

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

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Hu L et al.

Npj Breast Cancer, 2022

35449176 (PubMed )
Supplement: 41523_2022_417_MOESM3_ESM.xlsx › Sheet1

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

32792570 (PubMed )
Supplement: 41436_2020_922_MOESM5_ESM.xlsx › Suppl._Table_8
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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."