Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R381P
Back to variants list

TERT

NM_198253.3:p.R381P

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

A retrospective single-center pilot study of the genetic background of the transplanted kidney.

Novotna A et al.

Plos One, 2025

39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1

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

Structure of active human telomerase with telomere shelterin protein TPP1.

Liu B et al.

Nature, 2022

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.

Krenke K et al.

Clinical Genetics, 2019

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."