Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.W52R
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RPS19

NM_001022.4:p.W52R

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

Methylated HNRNPK acts on RPS19 to regulate ALOX15 synthesis in erythropoiesis.

Naarmann-de Vries IS et al.

Nucleic Acids Research, 2021

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

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.

Schuster J et al.

Blood Cells, Molecules & Diseases, 2010

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

Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.

Kuramitsu M et al.

British Journal of Haematology, 2008

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

Angelini M et al.

Human Molecular Genetics, 2007

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

Gregory LA et al.

Nucleic Acids Research, 2007

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Draptchinskaia N et al.

Nature Genetics, 1999

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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."