rs80292286

This variant is located in the WWP2 gene.

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ClinVar annotation

Benign★★★☆

2 submitters2 publications

About WWP2

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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