YWHAZ

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta

Summary

This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]

Known Variants27 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2013410838:101,932,954G/A—benign
rs15546123778:101,932,970G/C—conflicting classifications of pathogenicity
rs7611239778:101,932,991A/G—benign
rs7541991598:101,932,994G/A—likely benign
rs1449593608:101,936,165A/C—benign
rs11834398458:101,936,170G/A—likely benign
rs7633769578:101,936,246T/G—likely benign
rs12614669318:101,936,276A/G—likely benign
rs415078498:101,936,283A/G—benign
rs2012322348:101,936,343G/T—benign
rs1996017428:101,936,375A/C—benign
rs21301159078:101,936,450A/T—likely benign
rs7545228878:101,936,511G/A—pathogenic
rs25369432658:101,937,171C/T—uncertain significance
rs7628209778:101,937,177A/G—likely benign
rs12401392988:101,937,193T/G—likely benign
rs5447130988:101,937,239T/C—uncertain significance
rs12992289998:101,937,281G/A—likely benign
rs31343538:101,947,453A/C——
rs173659488:101,956,877C/Tregulatory region variant—
rs12709698428:101,960,810G/A—likely benign
rs7708796118:101,960,813T/C—likely benign
rs11667268838:101,960,854C/T—likely benign
rs414731448:101,960,857C/T—benign
rs15636917008:101,960,961C/T—uncertain significance
rs7753097058:101,961,078C/A—pathogenic
rs5331318618:101,961,079G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.