rs149073984

This variant is located in the PPP4R4 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PPP4R4

The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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