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Bruton agammaglobulinemia tyrosine kinase

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NCBI Description of BTK

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

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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

BTK is highly significantly mutated in
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BTK is significantly mutated in
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BTK 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 BTK