Article

Interpreting the Effects of DNA Polymerase Variants at the Structural Level Using MAVISp and Molecular Dynamics Simulations

2025-08-04

Abstract excerpt

Genetic variants in the DNA polymerase enzymes POLE and POLD1 can affect protein function by altering stability, catalysis, DNA binding, and interactions with other biomolecules. Understanding the structural basis of these variants is important for a comprehensive interpretation of variant impact. In this study, we used MAVISp, a modular structure-based framework, and molecular dynamics simulations to analyze over...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 41d00f38-7328-545b-99d2-f4d3625a8152
DOI: 10.1101/2025.08.04.653638

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Interpreting the Effects of DNA Polymerase Variants at the Structural Level Using MAVISp and Molecular Dynamics SimulationsDOI 10.1101/2025.08.04.653638Read

Interpreting the effects of DNA polymerase variants at the structural level.Semantic proximity Read

PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.Semantic proximity Read

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1Semantic proximity Read

An in silico analysis of the impact of POLE mutations on cladribine docking.Semantic proximity Read

DNArCdb: A database of cancer biomarkers in DNA repair genes that includes variants related to multiple cancer phenotypes.Semantic proximity Read

ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteinsSemantic proximity Read

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.Semantic proximity Read

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effectsSemantic proximity Read

In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene.Semantic proximity Read

ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.Semantic proximity Read

Comprehensive characterization of DNA polymerases driver variants using large genomic datasetSemantic proximity Read

Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.Semantic proximity Read