Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.Q520R
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POLE

NM_006231.4:p.Q520R

Associated Papers

Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.

Galati MA et al.

Cancer Research, 2020

Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Argyropoulos KV et al.

Blood Cancer Journal, 2020

33168809 (PubMed )
Supplement: 41408_2020_380_MOESM3_ESM.xlsx › Sheet1

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

POLE mutations in families predisposed to cutaneous melanoma.

Aoude LG et al.

Familial Cancer, 2015

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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."