NBEAL2 Back

neurobeachin-like 2

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NCBI Description of NBEAL2
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome.

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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

NBEAL2 is highly significantly mutated in
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NBEAL2 is significantly mutated in
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NBEAL2 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 NBEAL2