rs1553433412

This variant is located in the TPRKB gene.

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ClinVar annotation

Conflicting Classifications
2 submitters2 publications

Galloway-Mowat syndrome 5; Nephrotic syndrome

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About TPRKB

Enables protein kinase binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 5. [provided by Alliance of Genome Resources, Jul 2025]

View all TPRKB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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