Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R486C
Back to variants list

TERT

NM_198253.3:p.R486C

Associated Papers

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.

Zhang D et al.

The European Respiratory Journal, 2022

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors.

Walsh MF et al.

Jco Precision Oncology, 2019

Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

Newton CA et al.

The European Respiratory Journal, 2016

Medical genetics and epigenetics of telomerase.

Koziel JE et al.

Journal of Cellular and Molecular Medicine, 2011

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Diaz de Leon A et al.

Plos One, 2010

Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.

Hills M et al.

Annals of the New York Academy of Sciences, 2009

Genetic and environmental factors influencing human diseases with telomere dysfunction.

Ly H

International Journal of Clinical and Experimental Medicine, 2009

Telomere shortening in familial and sporadic pulmonary fibrosis.

Cronkhite JT et al.

American Journal of Respiratory and Critical Care Medicine, 2008

Human diseases of telomerase dysfunction: insights into tissue aging.

Garcia CK et al.

Nucleic Acids Research, 2007

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."