Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.P33S
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TERT

NM_198253.3:p.P33S

Associated Papers

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

Two co-inherited SNPs of the telomerase reverse transcriptase (TERT) gene are associated with Iraqi patients with lung cancer.

Lawi ZK et al.

Journal of Medical Biochemistry, 2023

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

Zhang D et al.

The European Respiratory Journal, 2022

The genomic and transcriptional landscape of primary central nervous system lymphoma.

Radke J et al.

Nature Communications, 2022

35538064 (PubMed )
Supplement: 41467_2022_30050_MOESM8_ESM.xlsx › SCNSL

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

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

Schmidt JC et al.

Elife, 2014

Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.

Kumar A et al.

Plos One, 2014

Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Zaug AJ et al.

Nucleic Acids Research, 2013

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

Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.

Robart AR et al.

The Journal of Biological Chemistry, 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

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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."