NHS Back

Nance-Horan syndrome (congenital cataracts and dental anomalies)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

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.

Community Annotation of NHS Add / Edit NHS: Annotations

No community annotations yet for NHS.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

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

NHS is highly significantly mutated in
(none)
NHS is significantly mutated in
(none)
NHS is near significance in
(none)

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

Data details


• Mutation list for NHS