Varaico: Literature-Extracted Genetic Variants

Gene:CTSC
Variant:p.R272H
Back to variants list

CTSC

NM_001814.6:p.R272H

Associated Papers

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis-A synthesis of recent findings.

Schaefer AS et al.

Periodontology 2000, 2025

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

Chitsamankhun C et al.

Journal of Translational Medicine, 2024

Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.

Richter GM et al.

Journal of Dental Research, 2022

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Wei H et al.

American Journal of Medical Genetics. Part A, 2020

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

Molitor A et al.

Journal of Human Genetics, 2019

CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.

Nagy N et al.

Molecular Genetics & Genomic Medicine, 2014

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

Hewitt C et al.

Human Mutation, 2004

Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.

Pallos D et al.

Journal of Dentistry for Children (chicago, Ill.), 0

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."