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VarQ: a tool for the structural analysis of Human Protein Variants

By Leandro Radusky, Carlos Modenutti, Javier Delgado, Juan P Bustamante, Sebastian Vishnopolska, Christina Kiel, Luis Serrano, Marcelo Marti, Adrián Turjanski

Posted 07 Mar 2018
bioRxiv DOI: 10.1101/277491 (published DOI: 10.3389/fgene.2018.00620)

Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. Even though there are several bioinformatic algorithms and servers that predict if a SAS can be pathogenic or not they give little or non-information on the actual effect on the protein function. Moreover, many of these algorithms are able to predict an effect that no necessarily translates directly into pathogenicity. VarQ Web Server is an online tool that given an UniProt id automatically analyzes known and user provided SAS for their effect on protein activity, folding, aggregation and protein interactions among others. VarQ assessment was performed over a set of previously manually curated variants, showing its ability to correctly predict the phenotypic outcome and its underlying cause. This resource is available online at http://varq.qb.fcen.uba.ar/. Contact: lradusky@qb.fcen.uba.ar Supporting Information & Tutorials may be found in the webpage of the tool.

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