Varaico: Literature-Extracted Genetic Variants

Gene:POLD1
Variant:p.A145T
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POLD1

NM_002691.4:p.A145T

Associated Papers

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

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Weber CAM et al.

Acta Neuropathologica Communications, 2023

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Palafox M et al.

Nature Communications, 2022

36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG
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