rs2508268872

This variant is located in the TAOK1 gene.

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ClinVar annotation

Pathogenic★★★☆
4 submitters2 publications

TAOK1-related disorder; Inborn genetic diseases; Developmental delay with or without intellectual impairment or behavioral abnormalities

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About TAOK1

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of MAPK cascade. Located in several cellular components, including microtubule cytoskeleton; nuclear body; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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