Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.D617fs
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POT1

NM_015450.3:p.D617fs

Associated Papers

Germline POT1 Variants in a Pan-Cancer Cohort.

Brock PL et al.

Jco Precision Oncology, 2025

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.

Burren OS et al.

Nature Genetics, 2024

39192095 (PubMed )
Supplement: 41588_2024_1884_MOESM4_ESM.xlsx › ST7_ExWAS

Loss-of-function variants in POT1 predispose to uveal melanoma.

Nathan V et al.

Journal of Medical Genetics, 2021

Role of POT1 in Human Cancer.

Wu Y et al.

Cancers, 2020

A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Rotunno M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma.

Seligson ND et al.

Jama Network Open, 2019

31577358 (PubMed )
Supplement: jamanetwopen-2-e1912416-s001.pdf
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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."