rs1338458031

This variant is located in the PPM1E gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PPM1E

This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

View all PPM1E variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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