TBC1D24 Back

TBC1 domain family, member 24

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NCBI Description of TBC1D24
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants.

Community Annotation of TBC1D24 Add / Edit TBC1D24: 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).


Legend

TBC1D24 is highly significantly mutated in
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TBC1D24 is significantly mutated in
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TBC1D24 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 TBC1D24