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Nance-Horan syndrome (congenital cataracts and dental anomalies)

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NCBI Description of NHS

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this 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).


NHS is highly significantly mutated in
NHS is significantly mutated in
NHS is near significance in

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

Data details

Mutation list for NHS