rs751979756

This variant is located in the MAPKAPK5 gene.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Neurocardiofaciodigital syndrome

About MAPKAPK5

The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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