FXN Back

frataxin

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NCBI Description of FXN

This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.

Community Annotation of FXN Add / Edit FXN: Annotations

No community annotations yet for FXN.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

FXN is highly significantly mutated in
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FXN is significantly mutated in
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FXN is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for FXN