Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.D617E
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POT1

NM_015450.3:p.D617E

Associated Papers

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

Zade NH et al.

Journal of Cellular Physiology, 2023

POT1 Regulates Proliferation and Confers Sexual Dimorphism in Glioma.

Jalali A et al.

Cancer Research, 2021

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Amir M et al.

Cells, 2020

The shelterin complex and hematopoiesis.

Jones M et al.

The Journal of Clinical Investigation, 2016

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.

Calvete O et al.

Nature Communications, 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."