CREB3L3

cAMP responsive element binding protein 3 like 3

Summary

This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Known Variants182 total

rsidPosition (GRCh37)AllelesClassClinVar
rs35088019:4,153,400G/A—benign
rs7353817419:4,153,566A/G—benign
rs35087919:4,153,659A/G—benign
rs77566307119:4,153,752C/T—conflicting classifications of pathogenicity
rs20037605919:4,153,753G/A—likely benign
rs14135423519:4,153,773T/C—conflicting classifications of pathogenicity
rs148005926319:4,153,788C/A—likely benign
rs35087819:4,153,856T/C—benign
rs408161419:4,154,846G/A—benign
rs4561893119:4,154,887G/A—benign
rs76344371819:4,154,888C/T—likely benign
rs75341792619:4,154,889G/A—likely benign
rs36846696019:4,154,892C/G—likely benign
rs74633744419:4,154,903C/T—uncertain significance
rs3547488119:4,154,910C/T—benign
rs75551650519:4,154,917A/G—uncertain significance
rs37093135119:4,154,923C/T—uncertain significance
rs77341400219:4,154,928C/T—likely benign
rs103836530219:4,154,932A/C—uncertain significance
rs14938756619:4,154,945T/C—uncertain significance
rs36877480119:4,154,951T/G—uncertain significance
rs20147434419:4,154,971G/A—uncertain significance
rs37661928019:4,154,986G/A—uncertain significance
rs74944250119:4,154,995G/T—uncertain significance
rs14365266019:4,154,998G/T—pathogenic
rs77966262219:4,154,999A/G—uncertain significance
rs76837546019:4,155,004T/C—uncertain significance
rs91237888619:4,155,006G/A—pathogenic
rs3547576419:4,155,021C/T—likely benign
rs35087219:4,156,841G/A—benign
rs6331086219:4,156,869C/T—benign
rs35087119:4,156,881G/A—benign
rs1042609019:4,156,939C/G—benign
rs76455601519:4,157,013T/C—likely benign
rs75731599619:4,157,018C/T—likely benign
rs214511993019:4,157,036C/T—likely benign
rs20159567519:4,157,068C/G—uncertain significance
rs251234368119:4,157,090T/C—likely benign
rs14302145419:4,157,105C/G—likely benign
rs37608037419:4,157,115C/A—conflicting classifications of pathogenicity
rs76223076719:4,157,120C/T—likely benign
rs14615859319:4,157,121G/A—uncertain significance
rs214512013719:4,157,129G/A—likely benign
rs75187594919:4,157,142C/T—uncertain significance
rs75595700919:4,157,143G/T—uncertain significance
rs7700274119:4,157,148G/A—benign
rs204159346519:4,157,149G/A—uncertain significance
rs36872823519:4,157,159C/G—likely benign
rs37558089619:4,157,166G/A—uncertain significance
rs14583948019:4,157,169G/A—likely benign
rs15088750819:4,157,176A/T—uncertain significance
rs76569181819:4,157,178C/G—uncertain significance
rs7752828319:4,157,187C/T—uncertain significance
rs14991717819:4,157,197G/A—uncertain significance
rs99639989519:4,157,205C/T—uncertain significance
rs251234393819:4,157,266C/T—uncertain significance
rs37261369519:4,157,284T/C—likely benign
rs204159762219:4,157,290T/C—uncertain significance
rs14267490019:4,157,371G/Cintron variant—
rs6660336219:4,159,509T/C—benign
rs1699228519:4,159,563C/G—benign
rs204163309619:4,159,666T/G—uncertain significance
rs37499846619:4,159,679G/A—uncertain significance
rs77565386019:4,159,700C/T—uncertain significance
rs53259873119:4,159,702G/A—uncertain significance
rs55257861819:4,159,710G/A—likely benign
rs76621656019:4,159,713G/A—likely benign
rs77426559619:4,159,714G/C—uncertain significance
rs142259356719:4,159,717C/T—likely benign
rs14486895819:4,159,722C/T—benign
rs53193224919:4,159,726C/T—pathogenic
rs77942763719:4,159,730G/T—uncertain significance
rs137661134319:4,159,734T/C—likely benign
rs36932050019:4,159,737C/T—benign
rs54871494619:4,159,741G/A—uncertain significance
rs14031265219:4,159,747G/A—likely benign
rs37723980019:4,159,760C/T—uncertain significance
rs175274478419:4,159,776C/A—uncertain significance
rs20122539619:4,159,796C/G—benign
rs204163540319:4,159,799C/A—likely benign
rs224070219:4,159,873A/G—benign
rs1699228819:4,164,474C/T—benign
rs20007850119:4,164,498A/G—likely pathogenic
rs204170076019:4,164,499G/A—likely pathogenic
rs116739372819:4,164,509C/T—uncertain significance
rs143330622919:4,164,526C/A—pathogenic
rs37678121619:4,164,533C/T—pathogenic
rs77796316419:4,164,534G/A—uncertain significance
rs99092956219:4,164,551T/C—uncertain significance
rs75618649719:4,164,610C/T—likely benign
rs19985527919:4,164,623C/G—benign
rs77986033219:4,164,627C/A—likely benign
rs74804052419:4,168,331C/T—likely benign
rs74871278019:4,168,345C/T—uncertain significance
rs77842836319:4,168,351G/A—conflicting classifications of pathogenicity
rs77236881819:4,168,358G/C—uncertain significance
rs14448776019:4,168,371A/T—likely benign
rs214513931619:4,168,372A/T—uncertain significance
rs53458471119:4,168,375C/T—uncertain significance
rs76328033719:4,168,378C/A—likely benign

Showing 100 of 182 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.