rs148960463

This is a variant in the POLK gene that changes a glutamate to an lysine.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters2 publications

Malignant tumor of prostate; Neurodevelopmental delay; Seizure

About POLK

This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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