Varaico: Literature-Extracted Genetic Variants

Gene:PCNA
Variant:p.S228I
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PCNA

NM_182649.2:p.S228I

Associated Papers

A FRET-Based Assay for the Identification of PCNA Inhibitors.

Hardebeck S et al.

International Journal of Molecular Sciences, 2023

A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.

Magrino J et al.

The Journal of Biological Chemistry, 2023

PCNA Ser46-Leu47 residues are crucial in preserving genomic integrity.

Kim S et al.

Plos One, 2023

Spotlight on the Replisome: Aetiology of DNA Replication-Associated Genetic Diseases.

Bellelli R et al.

Trends in Genetics : Tig, 2021

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions.

Wilson RH et al.

Dna Repair, 2017

DNA strand breaks and TDP-43 mislocation are absent in the murine hSOD1G93A model of amyotrophic lateral sclerosis in vivo and in vitro.

Penndorf D et al.

Plos One, 2017

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Shahrour MA et al.

Neurogenetics, 2016

A Disease-Causing Variant in PCNA Disrupts a Promiscuous Protein Binding Site.

Duffy CM et al.

Journal of Molecular Biology, 2016

Photosensitive human syndromes.

Spivak G et al.

Mutation Research, 2015

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

Baple EL et al.

The Journal of Clinical Investigation, 2014

PCNA mutation affects DNA repair not replication.

Green CM et al.

Cell Cycle (georgetown, Tex.), 2014

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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."