STXBP1 Back

syntaxin binding protein 1

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NCBI Description of STXBP1
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.

Community Annotation of STXBP1 Add / Edit STXBP1: 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

STXBP1 is highly significantly mutated in
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STXBP1 is significantly mutated in
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STXBP1 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 STXBP1