PHIP

PHIP subunit of CUL4-Ring ligase complex

Summary

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]

Known Variants657 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1454210106:79,650,411T/C—likely benign
rs21276772346:79,650,454G/A—uncertain significance
rs7516489146:79,650,499C/T—likely benign
rs7813127786:79,650,503C/T—likely benign
rs15541934056:79,650,559G/A—conflicting classifications of pathogenicity
rs1998014496:79,650,565G/C—uncertain significance
rs24817642276:79,650,573G/A—uncertain significance
rs17734661676:79,650,590A/C—likely benign
rs21276773906:79,650,607C/A—uncertain significance
rs13672767336:79,650,608A/C—uncertain significance
rs5632435506:79,650,613C/G—conflicting classifications of pathogenicity
rs17734681756:79,650,621T/A—uncertain significance
rs7632494066:79,650,648C/T—uncertain significance
rs13003123736:79,650,649G/A—uncertain significance
rs7781229606:79,650,665C/T—likely benign
rs10267631616:79,650,667C/T—uncertain significance
rs9308420426:79,650,683G/C—likely benign
rs7689514896:79,650,684A/T—uncertain significance
rs24817652076:79,650,695T/C—likely benign
rs3739417626:79,650,696G/A—likely benign
rs5656313716:79,650,722C/T—likely benign
rs3688324256:79,650,740T/G—benign
rs7747463326:79,650,744C/T—uncertain significance
rs3721541916:79,650,764A/C—conflicting classifications of pathogenicity
rs10114142946:79,650,793G/T—uncertain significance
rs3767506106:79,650,798T/C—conflicting classifications of pathogenicity
rs5715451446:79,650,803T/C—likely benign
rs24817661886:79,650,819A/C—uncertain significance
rs17734802066:79,650,840A/G—uncertain significance
rs3687035146:79,650,856A/C—uncertain significance
rs24817665516:79,650,867T/A—uncertain significance
rs24817667376:79,650,895T/C—uncertain significance
rs13087550796:79,650,920A/T—likely benign
rs9235576986:79,650,923A/G—likely benign
rs7675102066:79,650,927T/C—uncertain significance
rs13694665416:79,650,935A/T—conflicting classifications of pathogenicity
rs12196729846:79,650,937C/T—likely benign
rs24817672036:79,650,949G/A—uncertain significance
rs7661025896:79,650,950T/C—likely benign
rs7514311766:79,650,968C/T—likely benign
rs24817674136:79,650,974A/C—likely benign
rs24817674776:79,650,984G/A—uncertain significance
rs7526129746:79,650,991C/T—likely benign
rs3767781896:79,650,998G/A—likely benign
rs5572544956:79,651,027G/A—benign
rs24817678886:79,651,029G/A—benign
rs7761622596:79,651,030C/T—conflicting classifications of pathogenicity
rs7688604366:79,651,031G/A—likely benign
rs13381879036:79,651,041C/G—likely benign
rs5438142356:79,655,012C/T—uncertain significance
rs14153207806:79,655,054C/T—likely benign
rs7473121566:79,655,055G/A—conflicting classifications of pathogenicity
rs3741179496:79,655,062G/A—uncertain significance
rs7604552926:79,655,085C/G—uncertain significance
rs24817891076:79,655,129A/C—uncertain significance
rs24817891246:79,655,132C/G—uncertain significance
rs14730655816:79,655,133C/A—uncertain significance
rs24817892936:79,655,148A/C—uncertain significance
rs7495428836:79,655,154G/T—uncertain significance
rs3768410916:79,655,156T/C—benign
rs24817893906:79,655,161C/G—benign
rs7683881516:79,655,162A/G—likely benign
rs24817896226:79,655,181A/C—uncertain significance
rs7766598766:79,655,184G/A—uncertain significance
rs17737578506:79,655,192A/G—uncertain significance
rs17737595396:79,655,216T/A—likely pathogenic
rs7554171466:79,655,221C/T—likely benign
rs1133143746:79,655,225C/G—likely benign
rs109436056:79,655,477G/A—benign
rs7731698026:79,655,698A/G—likely benign
rs2013162566:79,655,718T/C—likely benign
rs610224486:79,655,763T/G—likely benign
rs7645537346:79,655,776A/T—likely benign
rs7573565446:79,655,785T/C—likely benign
rs1381089856:79,655,802C/T—uncertain significance
rs24817939276:79,655,815C/T—likely benign
rs17737984186:79,655,820G/A—pathogenic
rs21276822616:79,655,829T/C—uncertain significance
rs1491107426:79,655,832T/C—conflicting classifications of pathogenicity
rs7479340366:79,655,834C/T—uncertain significance
rs12698412406:79,655,835G/A—pathogenic
rs14839582496:79,655,853C/T—uncertain significance
rs17738008096:79,655,855G/A—uncertain significance
rs11881680336:79,655,859T/C—uncertain significance
rs14740492106:79,655,863G/A—likely benign
rs11847669696:79,655,866T/C—uncertain significance
rs24817943156:79,655,874C/T—benign
rs24817943286:79,655,875A/G—likely benign
rs7590780976:79,655,879T/C—benign
rs13609185786:79,655,890C/T—likely benign
rs5567815046:79,655,891G/A—uncertain significance
rs24817945246:79,655,898A/G—uncertain significance
rs13048223596:79,655,901G/A—pathogenic
rs24817945896:79,655,907G/C—uncertain significance
rs24817947276:79,655,922A/C—uncertain significance
rs15541942876:79,655,946G/A—pathogenic
rs13298148166:79,655,974A/G—likely benign
rs24817951386:79,655,976G/T—uncertain significance
rs24817975796:79,656,427C/T—pathogenic
rs3680009376:79,656,462T/C—likely benign

Showing 100 of 657 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.