PFN1 Back

profilin 1

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NCBI Description of PFN1

This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1.

Community Annotation of PFN1 Add / Edit PFN1: 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

PFN1 is highly significantly mutated in
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PFN1 is significantly mutated in
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PFN1 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 PFN1