CEBPE

CCAAT enhancer binding protein epsilon

Summary

The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

Known Variants171 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14944404314:23,586,700C/T—conflicting classifications of pathogenicity
rs37071817514:23,586,709C/T—uncertain significance
rs74766057614:23,586,713C/T—uncertain significance
rs14375321514:23,586,714G/A—likely benign
rs143119493814:23,586,722T/C—uncertain significance
rs214029097914:23,586,729G/A—likely benign
rs77471924114:23,586,732C/T—likely benign
rs214029099014:23,586,738A/G—likely benign
rs96151181714:23,586,744C/T—likely benign
rs143303380514:23,586,747G/C—likely benign
rs19996742814:23,586,748C/T—uncertain significance
rs75408798314:23,586,749G/A—uncertain significance
rs75744838714:23,586,752A/C—uncertain significance
rs159480833114:23,586,753G/C—likely benign
rs250181735114:23,586,763A/C—uncertain significance
rs142063841514:23,586,764G/A—uncertain significance
rs75565429014:23,586,770C/T—uncertain significance
rs5572293114:23,586,795A/G—benign
rs250181744914:23,586,800T/G—uncertain significance
rs134880950414:23,586,802C/T—uncertain significance
rs76112801514:23,586,809G/A—uncertain significance
rs76874238414:23,586,813G/A—likely benign
rs37471225714:23,586,819T/C—likely benign
rs131025276814:23,586,821C/T—uncertain significance
rs20160953714:23,586,830C/G—uncertain significance
rs36779531214:23,586,831C/T—likely benign
rs37265147514:23,586,862C/G—uncertain significance
rs204851556014:23,586,873G/A—likely benign
rs156677305914:23,586,880C/T—uncertain significance
rs204851561314:23,586,885G/A—uncertain significance
rs250181772414:23,586,886C/T—pathogenic
rs74752469714:23,586,889A/G—likely pathogenic
rs250181775714:23,586,897G/A—likely benign
rs204851570114:23,586,900G/A—likely benign
rs204851573714:23,586,904C/T—uncertain significance
rs214029118114:23,586,905G/A—uncertain significance
rs14118548914:23,586,918C/T—likely benign
rs76600579714:23,586,929G/A—uncertain significance
rs76075907814:23,586,931C/G—uncertain significance
rs75333751114:23,586,933A/G—likely benign
rs75352443514:23,586,939G/A—likely benign
rs20125773414:23,586,941T/C—uncertain significance
rs166452535014:23,586,955C/T—uncertain significance
rs14738434914:23,586,956C/A—uncertain significance
rs75798659014:23,586,961T/G—uncertain significance
rs75554031114:23,586,967G/A—uncertain significance
rs250181794614:23,586,969G/A—likely benign
rs37325174114:23,586,975C/G—likely benign
rs37653435814:23,586,977G/A—uncertain significance
rs36914526114:23,586,978G/A—likely benign
rs37285424314:23,586,984C/T—likely benign
rs250181801614:23,586,988T/G—uncertain significance
rs74954091114:23,586,991A/G—uncertain significance
rs77548161214:23,586,995G/A—uncertain significance
rs76052380314:23,586,996G/A—likely benign
rs77837463814:23,587,006G/A—uncertain significance
rs13785722814:23,587,008G/A—likely benign
rs250181811714:23,587,017A/G—likely benign
rs75811563914:23,587,018G/C—uncertain significance
rs76600545914:23,587,025A/C—uncertain significance
rs75197293114:23,587,030G/T—uncertain significance
rs75530786914:23,587,038G/A—likely benign
rs14745353514:23,587,046A/C—benign
rs74936409314:23,587,048G/A—likely benign
rs204851732014:23,587,051G/C—likely benign
rs4549629514:23,587,055T/C—benign
rs117865862814:23,587,776C/T—likely benign
rs142210723814:23,587,781C/T—likely benign
rs204852110714:23,587,785T/C—uncertain significance
rs37193759714:23,587,797A/G—likely benign
rs37154980514:23,587,799C/T—uncertain significance
rs74609784614:23,587,800G/A—likely benign
rs55988685114:23,587,802G/A—uncertain significance
rs127357706914:23,587,805G/C—uncertain significance
rs76284214414:23,587,814C/T—conflicting classifications of pathogenicity
rs77045142114:23,587,815G/A—likely benign
rs77379406414:23,587,817G/T—uncertain significance
rs75441852314:23,587,832G/A—uncertain significance
rs14190348514:23,587,838G/T—likely benign
rs56221153814:23,587,864G/A—uncertain significance
rs76951189114:23,587,865C/A—uncertain significance
rs14060676814:23,587,891C/T—uncertain significance
rs37419082614:23,587,897C/T—uncertain significance
rs77503656914:23,587,898G/A—pathogenic
rs132223699714:23,587,902G/A—likely benign
rs136330175414:23,587,909C/T—uncertain significance
rs76032531614:23,587,910G/A—pathogenic
rs6173780414:23,587,927C/T—uncertain significance
rs76247425014:23,587,928G/A—uncertain significance
rs204852247314:23,587,935C/A—uncertain significance
rs97283037814:23,587,941C/T—likely benign
rs20222057314:23,587,944C/A—likely benign
rs75213485914:23,587,945G/T—uncertain significance
rs74908089914:23,587,949C/A—uncertain significance
rs36847401114:23,587,950A/G—likely benign
rs156677353714:23,587,952C/T—uncertain significance
rs77878779014:23,587,957G/A—uncertain significance
rs146297124514:23,587,958G/T—uncertain significance
rs204852269414:23,587,961C/T—uncertain significance
rs74577456914:23,587,962G/A—likely benign

Showing 100 of 171 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.