rs201637381

This variant is located in the PPP4R1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PPP4R1

This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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