Varaico: Literature-Extracted Genetic Variants

Gene:RPS20
Variant:p.K49insFs
Back to variants list

RPS20

NM_001023.4:p.K49insFs

Associated Papers

Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.

Cagliano S et al.

International Journal of Molecular Sciences, 2025

Association of RPS20 Loss-of-Function Variants With Colorectal Cancer Risk in a Cohort of Over 950,000 Individuals.

Herrera-Mullar J et al.

Jco Precision Oncology, 2025

New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.

Amiot J et al.

Familial Cancer, 2025

The Inherited and Familial Component of Early-Onset Colorectal Cancer.

Daca Alvarez M et al.

Cells, 2021

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

Bhar S et al.

Human Mutation, 2020

Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.

Belhadj S et al.

Human Mutation, 2020

Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.

Terradas M et al.

Journal of Clinical Medicine, 2020

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.

Thompson BA et al.

Clinical Genetics, 2020

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.

Nieminen TT et al.

Gastroenterology, 2014

Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.

Nejadtaghi M et al.

Current Problems in Cancer, 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."