Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.D868A
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TERT

NM_198253.3:p.D868A

Associated Papers

Telomere recapping via gene therapy as a beneficial strategy for cardio-renal syndrome type 4.

Xie D et al.

Kidney International, 2026

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

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

Coordinated DNA dynamics during the human telomerase catalytic cycle.

Parks JW et al.

Nature Communications, 2014

In situ visualization of telomere elongation patterns in human cells.

Diolaiti ME et al.

Nucleic Acids Research, 2013

The major reverse transcriptase-incompetent splice variant of the human telomerase protein inhibits telomerase activity but protects from apoptosis.

Listerman I et al.

Cancer Research, 2013

Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence.

Benson EK et al.

Journal of Cell Science, 2010

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."