VSX1 Back

visual system homeobox 1

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NCBI Description of VSX1
The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described.

Community Annotation of VSX1 Add / Edit VSX1: Annotations

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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

VSX1 is highly significantly mutated in
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VSX1 is significantly mutated in
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VSX1 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 VSX1