DKK1

dickkopf Wnt signaling pathway inhibitor 1

Summary

This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017]

Known Variants25 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1100155310:54,072,901C/Tregulatory region variant—
rs75116732110:54,074,239G/T—likely benign
rs14047104010:54,074,240A/C—benign
rs36861902810:54,074,305C/T—likely benign
rs37273067710:54,074,375A/C—uncertain significance
rs117327272610:54,074,446G/A—likely benign
rs11218300510:54,074,677C/T—benign
rs124632776810:54,074,686T/C—uncertain significance
rs74615460910:54,074,731G/C—uncertain significance
rs14111537910:54,074,755G/A—likely benign
rs224152910:54,074,757A/Gsynonymous variant—
rs37265127610:54,074,776G/A—conflicting classifications of pathogenicity
rs14926804210:54,074,798G/T—likely benign
rs1100156010:54,075,127T/Cupstream gene variant—
rs20188449610:54,076,059A/G—uncertain significance
rs249294471110:54,076,072G/A—uncertain significance
rs75224813010:54,076,100A/T—uncertain significance
rs156919810:54,076,271A/Gupstream gene variant—
rs18395184910:54,076,310G/A—likely benign
rs20098406510:54,076,322G/T—uncertain significance
rs77861642910:54,076,400C/T—uncertain significance
rs20058893710:54,076,438G/A—likely benign
rs76948257310:54,076,451C/T—uncertain significance
rs14868686710:54,076,453T/C—likely benign
rs130051806310:54,076,550A/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.