SHFM1 Back

split hand/foot malformation (ectrodactyly) type 1

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NCBI Description of SHFM1
The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.

Community Annotation of SHFM1 Add / Edit SHFM1: Annotations

No community annotations yet for SHFM1.
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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

SHFM1 is highly significantly mutated in
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SHFM1 is significantly mutated in
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SHFM1 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 SHFM1