ARL13B Back

ADP-ribosylation factor-like 13B

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NCBI Description of ARL13B

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants.

Community Annotation of ARL13B Add / Edit ARL13B: 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

ARL13B is highly significantly mutated in
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ARL13B is significantly mutated in
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ARL13B 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 ARL13B