glial fibrillary acidic protein

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NCBI Description of GFAP

This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Community Annotation of GFAP Add / Edit GFAP: Annotations

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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).


GFAP is highly significantly mutated in
GFAP is significantly mutated in
GFAP is near significance in
9 patients (3%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for GFAP