Aleksandra Panfilova

Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN

The paper establishes a framework to assess NALCN variant pathogenicity using functional and computational methods, distinguishing benign from gain- and loss-of-function variants.

Disentangling the mutational effects on protein stability and interaction of human MLH1

This paper investigates how MLH1 mutations affect protein stability and interaction with PMS2, identifying regions that influence these properties and distinguishing pathogenic from benign variants.

Systematic characterization of indel variants using a yeast-based protein folding sensor

The paper develops a yeast-based protein folding sensor to study indel variants, finding that most tolerated indels occur in specific regions and that computational tools can predict their effects.

MutationExplorer - a webserver for mutation of proteins and 3D visualization of energetic impacts

MutationExplorer provides a webserver to visualize the energetic impacts of protein mutations on 3D structures using Rosetta and supports SNP analysis and sequence uploads.