Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.K78E
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TERT

NM_198253.3:p.K78E

Associated Papers

Human RPA is an essential telomerase processivity factor for maintaining telomeres.

Agrawal S et al.

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

Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.

Bertrand A et al.

Human Molecular Genetics, 2024

Pot1b -/- tumors activate G-quadruplex-induced DNA damage to promote telomere hyper-elongation.

Takasugi T et al.

Nucleic Acids Research, 2023

Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.

Cooper AJ et al.

Jto Clinical and Research Reports, 2022

36118132 (PubMed )
Supplement: mmc2.docx

Single-Molecule Imaging of Telomerase RNA Reveals a Recruitment-Retention Model for Telomere Elongation.

Laprade H et al.

Molecular Cell, 2020

Dynamics of human telomerase recruitment depend on template-telomere base pairing.

Schmidt JC et al.

Molecular Biology of the Cell, 2018

Stabilization of Reversed Replication Forks by Telomerase Drives Telomere Catastrophe.

Margalef P et al.

Cell, 2018

Human telomerase: biogenesis, trafficking, recruitment, and activation.

Schmidt JC et al.

Genes & Development, 2015

Identification of human TERT elements necessary for telomerase recruitment to telomeres.

Schmidt JC et al.

Elife, 2014

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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."