Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.D869A
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TERT

NM_198253.3:p.D869A

Associated Papers

Cryo-EM structure of human telomerase dimer reveals H/ACA RNP-mediated dimerization.

Balch S et al.

Science (new York, N.y.), 2025

Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.

Virijevic M et al.

Familial Cancer, 2024

Telomerase promotes formation of a telomere protective complex in cancer cells.

Perera ON et al.

Science Advances, 2019

Structural, functional, and stability change predictions in human telomerase upon specific point mutations.

Kalathiya U et al.

Scientific Reports, 2019

Human telomerase protein: Understanding how the catalytic activity is suppressed under single substitutions of some conserved residues. A computational study.

Herrera FE et al.

Proteins, 2018

Reconstitution of human telomerase activity in vitro.

Beattie TL et al.

Current Biology : Cb, 1998

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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."