GJB3 Back

gap junction protein, beta 3, 31kDa

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NCBI Description of GJB3

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.

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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

GJB3 is highly significantly mutated in
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GJB3 is significantly mutated in
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GJB3 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 GJB3