GABRG2 Back

gamma-aminobutyric acid (GABA) A receptor, gamma 2

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NCBI Description of GABRG2

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene.

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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

GABRG2 is highly significantly mutated in
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GABRG2 is significantly mutated in
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GABRG2 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 GABRG2