Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.D718N
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TERT

NM_198253.3:p.D718N

Associated Papers

Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.

Balch S et al.

Nature Communications, 2026

41565648 (PubMed )
Supplement: 41467_2026_68560_MOESM3_ESM.xlsx › Sheet1

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.

Kontogianni G et al.

Cancers, 2023

36765773 (PubMed )
Supplement: cancers-15-00815-s001.zip › Tables_S1-S7.xlsx › Supplementary_Table_1

TERT expression is associated with metastasis from thin primaries, exhausted CD4+ T cells in melanoma and with DNA repair across cancer entities.

Kuhn CK et al.

Plos One, 2023

37418389 (PubMed )
Supplement: pone.0281487.s001.docx

The spectrum of paroxysmal nocturnal hemoglobinuria clinical presentation in a Brazilian single referral center.

Pires da Silva BGP et al.

Annals of Hematology, 2022

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Norris K et al.

Human Genetics, 2021

33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf

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

Kalathiya U et al.

Scientific Reports, 2019

31213647 (PubMed )
Supplement: 41598_2019_45206_MOESM1_ESM.pdf

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Vulliamy TJ et al.

Plos One, 2011

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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."