SMNDC1 Back

survival motor neuron domain containing 1

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NCBI Description of SMNDC1

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene.

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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

SMNDC1 is highly significantly mutated in
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SMNDC1 is significantly mutated in
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SMNDC1 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 SMNDC1