SYNGAP1 Back

synaptic Ras GTPase activating protein 1 homolog (rat)

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NCBI Description of SYNGAP1

The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5).

Community Annotation of SYNGAP1 Add / Edit SYNGAP1: 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

SYNGAP1 is highly significantly mutated in
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SYNGAP1 is significantly mutated in
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SYNGAP1 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 SYNGAP1