GENETIC ENCYCLOPEDIA
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gene: PHIP

id55023
symbolPHIP
organismHomo sapiens
full namepleckstrin homology domain interacting protein
summaryThis 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]
variant-disease

NM_017934.7(PHIP):c.298_299del (p.Leu100fs) AND DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM

NM_017934.7(PHIP):c.686C>T (p.Ser229Leu) AND DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM

NM_017934.7(PHIP):c.779del (p.Leu260fs) AND not provided

NM_017934.7(PHIP):c.855T>A (p.Tyr285Ter) AND not provided

NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs) AND not provided

... 54 more


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