Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.S59F
Back to variants list

RPS19

NM_001022.4:p.S59F

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.

An K et al.

Frontiers in Genetics, 2021

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Aspesi A et al.

Human Mutation, 2018

29766597 (PubMed )
Supplement: HUMU-39-1102-s001.pdf

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Boria I et al.

Human Mutation, 2008

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.

Gregory LA et al.

Nucleic Acids Research, 2007

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

Gazda HT et al.

British Journal of Haematology, 2004

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."