Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.P116L
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POT1

NM_015450.3:p.P116L

Associated Papers

Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini-associated cholangiocarcinoma.

Sitthirak S et al.

Scientific Reports, 2025

40157958 (PubMed )
Supplement: 41598_2025_95142_MOESM17_ESM.xlsx › Sheet1

Mutational heterogeneities in STAT3 and clonal hematopoiesis-related genes in acquired pure red cell aplasia.

Kawakami T et al.

Annals of Hematology, 2025

40202536 (PubMed )
Supplement: 277_2025_6356_MOESM3_ESM.xlsx › S4

POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.

Zade NH et al.

Journal of Cellular Physiology, 2023

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

McGuigan A et al.

European Journal of Human Genetics : Ejhg, 2022

34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf

A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.

Nathan V et al.

British Journal of Haematology, 2021

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

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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."