rs2481767203

This variant is located in the PHIP gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

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About PHIP

This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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