neurobeachin-like 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

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.

Community Annotation of NBEAL2 Add / Edit NBEAL2: Annotations

No community annotations yet for NBEAL2.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

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).


NBEAL2 is highly significantly mutated in
NBEAL2 is significantly mutated in
NBEAL2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for NBEAL2