PNKP Back

polynucleotide kinase 3'-phosphatase

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NCBI Description of PNKP

This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.

Community Annotation of PNKP Add / Edit PNKP: 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

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

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

Data details


Mutation list for PNKP