Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.D104G
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FXN

NM_000144.5:p.D104G

Associated Papers

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

Botticelli S et al.

Molecules (basel, Switzerland), 2022

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

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

Schmucker S et al.

Plos One, 2011

The in vivo mitochondrial two-step maturation of human frataxin.

Schmucker S et al.

Human Molecular Genetics, 2008

18725397 (PubMed )
Supplement: ddn244_Supplementary_Data.zip › ddn244supp.pdf
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