Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.E344*
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POT1

NM_015450.3:p.E344*

Associated Papers

Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.

Chong AL et al.

The American Journal of Surgical Pathology, 2024

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.

Jiang YJ et al.

Frontiers in Oncology, 2024

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

Zade NH et al.

Journal of Cellular Physiology, 2023

POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.

Shen E et al.

Journal of Medical Genetics, 2020

Role of POT1 in Human Cancer.

Wu Y et al.

Cancers, 2020

A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.

Srivastava A et al.

Cancers, 2020

32492864 (PubMed )
Supplement: cancers-12-01441-s001.zip › cancers-809741_Supplementary_Tables.xlsx › Table_S2

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.

Potrony M et al.

The British Journal of Dermatology, 2019

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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."