CREB3L1

cAMP responsive element binding protein 3 like 1

Summary

The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]

Known Variants250 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14901825111:46,299,092A/C—likely benign
rs1103884611:46,299,309C/G—benign
rs91011181211:46,299,671C/A—likely benign
rs75954736411:46,299,682C/A—uncertain significance
rs37353695411:46,299,689G/A—likely benign
rs75632673011:46,299,695C/T—likely benign
rs139431510111:46,299,698G/A—likely benign
rs249607665911:46,299,707C/T—likely benign
rs155522105511:46,299,708G/T—uncertain significance
rs193890674511:46,299,725C/T—likely benign
rs86649369811:46,299,729G/C—uncertain significance
rs117081823511:46,299,740C/T—likely benign
rs145581571811:46,299,772G/A—likely benign
rs18752805311:46,313,528G/Aregulatory region variant—
rs7704782511:46,318,032C/G—benign
rs14787118811:46,318,922G/Tregulatory region variant—
rs1103885611:46,321,235C/G—benign
rs159034382111:46,321,468C/T—likely benign
rs76441591411:46,321,487A/G—uncertain significance
rs18180407011:46,321,515G/A—likely benign
rs76566191911:46,321,516G/A—uncertain significance
rs249613063411:46,321,567C/T—uncertain significance
rs56193172011:46,321,594T/A—uncertain significance
rs52963352911:46,321,619C/T—uncertain significance
rs127629495111:46,321,621C/T—uncertain significance
rs11144482911:46,321,635G/A—likely benign
rs36864256911:46,321,644C/T—likely benign
rs75238440011:46,321,655G/C—uncertain significance
rs75574035511:46,321,656C/T—likely benign
rs20083979211:46,321,657G/A—uncertain significance
rs74911529411:46,321,659C/T—likely benign
rs18613464711:46,321,660G/A—uncertain significance
rs19003830411:46,321,667C/T—uncertain significance
rs249613159111:46,321,674G/A—likely benign
rs76890129011:46,321,677C/T—likely benign
rs249613170211:46,321,695G/A—likely benign
rs53148471011:46,321,731C/A—likely benign
rs249613201611:46,321,732C/T—likely benign
rs1228677811:46,321,827A/C—benign
rs53217923311:46,329,354C/T—likely benign
rs117186120011:46,329,362C/A—likely benign
rs36898728711:46,329,367A/T—uncertain significance
rs74585451711:46,329,370C/T—uncertain significance
rs76970253311:46,329,388C/T—likely benign
rs37224000811:46,329,389G/A—likely benign
rs131620548211:46,329,392G/A—likely benign
rs77591914111:46,329,422G/A—likely benign
rs77497282611:46,329,436C/G—uncertain significance
rs37492673711:46,329,437G/A—likely benign
rs53165490811:46,329,446C/T—likely benign
rs75624659611:46,329,453C/T—uncertain significance
rs77768306311:46,329,464C/T—likely benign
rs74624513911:46,329,469C/T—uncertain significance
rs56828804211:46,329,470G/A—likely benign
rs193942410111:46,329,475T/A—uncertain significance
rs193942418111:46,329,479T/G—likely benign
rs77599588911:46,329,480G/C—uncertain significance
rs193942431511:46,329,481C/A—uncertain significance
rs76159664511:46,329,482C/T—likely benign
rs76498204211:46,329,483G/A—uncertain significance
rs75003379811:46,329,484C/T—uncertain significance
rs36986833711:46,329,485G/A—likely benign
rs76623374611:46,329,488C/T—likely benign
rs19995114411:46,329,489G/A—likely benign
rs77796686111:46,329,492A/T—uncertain significance
rs193942491311:46,329,493T/G—uncertain significance
rs37233007311:46,329,498A/C—likely benign
rs144140287211:46,329,500C/T—likely benign
rs74605226211:46,329,507C/G—uncertain significance
rs77581300611:46,329,521C/A—uncertain significance
rs74761204911:46,329,523C/G—uncertain significance
rs123531753911:46,329,529C/T—uncertain significance
rs76123936211:46,329,536G/A—likely benign
rs55615663711:46,329,541T/C—uncertain significance
rs75948443011:46,329,543C/T—uncertain significance
rs213635194411:46,329,547A/C—uncertain significance
rs249615715011:46,329,555A/G—likely benign
rs75047575111:46,329,560G/A—likely benign
rs7684869711:46,329,748G/A—benign
rs7346189411:46,329,785C/T—likely benign
rs11395991311:46,329,835A/G—benign
rs7346189611:46,329,838A/G—likely benign
rs7291005711:46,331,362G/T—benign
rs249616192611:46,331,523G/A—likely benign
rs147753738511:46,331,537C/T—uncertain significance
rs18718228411:46,331,544C/T—uncertain significance
rs74734297811:46,331,545G/A—likely benign
rs20128842811:46,331,546G/A—uncertain significance
rs74864615411:46,331,549G/A—uncertain significance
rs159034930411:46,331,555A/G—uncertain significance
rs77528465111:46,331,588G/A—uncertain significance
rs75261840411:46,331,631A/G—likely benign
rs53491762411:46,331,798T/G—likely benign
rs14694449711:46,331,881C/T—benign
rs7652954311:46,332,358C/G—benign
rs230343511:46,332,504T/C—benign
rs37641940111:46,332,575C/T—conflicting classifications of pathogenicity
rs18772553311:46,332,586A/T—conflicting classifications of pathogenicity
rs77050807611:46,332,587C/T—likely benign
rs74550276811:46,332,589T/C—uncertain significance

Showing 100 of 250 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.