Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.Y123S
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FXN

NM_000144.5:p.Y123S

Associated Papers

Modelling Protein Plasticity: The Example of Frataxin and Its Variants.

Botticelli S et al.

Molecules (basel, Switzerland), 2022

Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.

Campbell CJ et al.

International Journal of Molecular Sciences, 2021

Analysis and Interpretation of the Impact of Missense Variants in Cancer.

Petrosino M et al.

International Journal of Molecular Sciences, 2021

Characterization of human frataxin missense variants in cancer tissues.

Petrosino M et al.

Human Mutation, 2019

Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations.

Garg A et al.

Human Mutation, 2019

Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.

Savojardo C et al.

Human Mutation, 2019

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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."