EFHC2 Back

EF-hand domain (C-terminal) containing 2

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NCBI Description of EFHC2
This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome.

Community Annotation of EFHC2 Add / Edit EFHC2: Annotations

No community annotations yet for EFHC2.
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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

EFHC2 is highly significantly mutated in
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EFHC2 is significantly mutated in
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EFHC2 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 EFHC2