rs140499972
This variant is located in the NEDD4 gene.
▶ClinVar annotation
Likely Benign★★★☆
3 submitters2 publicationsAbout NEDD4
This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]
View all NEDD4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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