Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.R117H
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POT1

NM_015450.3:p.R117H

Associated Papers

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort.

Simonin-Wilmer I et al.

Journal of Medical Genetics, 2023

Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.

Goldstein AM et al.

Jaad International, 2023

Role of POT1 in Human Cancer.

Wu Y et al.

Cancers, 2020

Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series.

Jacobs DI et al.

Neuro-oncology, 2018

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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."