Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.C501_E502delFs
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POLE

NM_006231.4:p.C501_E502delFs

Associated Papers

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS3

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

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_MOESM6_ESM.xlsx › Suppl._Table_10

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3
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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."