MCPH1 Back

microcephalin 1

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NCBI Description of MCPH1

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.

Community Annotation of MCPH1 Add / Edit MCPH1: Annotations

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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

MCPH1 is highly significantly mutated in
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MCPH1 is significantly mutated in
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MCPH1 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 MCPH1