AEBP1

AE binding protein 1

Summary

This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]

Known Variants442 total

rsidPosition (GRCh37)AllelesClassClinVar
rs283625207:44,144,201C/G—benign
rs7662506017:44,144,266T/A—likely pathogenic
rs21288077047:44,144,279C/T—likely benign
rs283625217:44,144,284C/A—likely benign
rs5724031337:44,144,285G/A—likely benign
rs5753628047:44,144,291G/A—likely benign
rs7779655857:44,144,294C/T—likely benign
rs5457024077:44,144,301C/T—uncertain significance
rs20962210847:44,144,303C/T—likely benign
rs7793719637:44,144,307G/A—uncertain significance
rs24843324577:44,144,312G/A—likely benign
rs20962211107:44,144,318C/T—likely benign
rs20962211287:44,144,336C/T—likely benign
rs5643609277:44,144,343A/T—uncertain significance
rs20962211567:44,144,351G/C—likely benign
rs7660493097:44,144,363G/A—likely benign
rs14669812477:44,144,399A/G—likely benign
rs1411264047:44,144,407A/G—conflicting classifications of pathogenicity
rs14305208507:44,144,409C/T—uncertain significance
rs9719979797:44,144,458G/A—uncertain significance
rs5592996167:44,144,461T/G—uncertain significance
rs7693978467:44,144,465A/G—likely benign
rs7774612607:44,144,477G/T—likely benign
rs7739526157:44,144,500C/G—uncertain significance
rs24843332797:44,144,507G/C—likely benign
rs1919532687:44,144,599C/T—likely benign
rs25371907:44,144,779C/T—benign
rs15584697:44,145,910C/T—benign
rs7773639017:44,146,126G/A—likely benign
rs7488382687:44,146,132G/T—likely benign
rs7704114937:44,146,140G/A—conflicting classifications of pathogenicity
rs14586103757:44,146,142C/T—uncertain significance
rs751074457:44,146,151C/T—conflicting classifications of pathogenicity
rs1390783397:44,146,158G/C—uncertain significance
rs11808815547:44,146,189G/A—uncertain significance
rs24843368127:44,146,200C/T—likely benign
rs1451091447:44,146,202A/G—uncertain significance
rs24843368317:44,146,206G/A—likely benign
rs24843368557:44,146,218C/A—likely benign
rs7519900567:44,146,227G/A—likely benign
rs2012271897:44,146,239G/A—likely benign
rs14749466267:44,146,272C/A—likely benign
rs2002241047:44,146,275C/G—likely benign
rs5398673347:44,146,299T/C—likely benign
rs7480769957:44,146,300A/G—uncertain significance
rs7698782237:44,146,302G/A—likely benign
rs12697466797:44,146,352A/G—uncertain significance
rs2011517537:44,146,356G/A—likely benign
rs7599637777:44,146,374C/T—likely benign
rs1409133797:44,146,385C/T—uncertain significance
rs1449744967:44,146,386G/A—likely benign
rs2006985947:44,146,398G/A—likely benign
rs12578204357:44,146,442C/T—uncertain significance
rs5513624787:44,146,448C/A—uncertain significance
rs2001938377:44,146,451C/G—likely benign
rs7645109737:44,146,452C/G—likely benign
rs3689735247:44,146,465G/A—conflicting classifications of pathogenicity
rs7546483057:44,146,470G/A—likely benign
rs12176848977:44,146,476C/T—likely benign
rs7678188587:44,146,478A/C—uncertain significance
rs7775608887:44,146,483G/A—uncertain significance
rs7492840447:44,146,496G/A—likely benign
rs24843378977:44,146,501C/T—likely benign
rs798255277:44,146,697C/G—likely benign
rs1507587967:44,146,748C/T—likely benign
rs1132499897:44,146,783G/T—benign
rs1162178307:44,146,901C/T—likely benign
rs7623405847:44,147,023A/G—likely benign
rs7658269927:44,147,028T/A—uncertain significance
rs1393525667:44,147,041C/T—likely benign
rs11835316057:44,147,042G/A—likely benign
rs12903132187:44,147,068C/T—uncertain significance
rs7472976087:44,147,093A/T—likely benign
rs7688640687:44,147,094C/T—uncertain significance
rs1998888667:44,147,120G/A—likely benign
rs21288082167:44,147,124T/C—likely benign
rs2017364577:44,147,126C/T—likely benign
rs7536956017:44,147,127G/A—likely benign
rs351471727:44,147,165A/G—benign
rs360403437:44,147,193A/G—benign
rs2011377097:44,147,214C/T—benign
rs1155385277:44,147,215G/T—benign
rs24843404197:44,147,222C/T—likely benign
rs1820974267:44,147,224T/G—benign
rs7583852597:44,147,232G/A—likely benign
rs1489321837:44,147,244C/T—likely benign
rs3720150987:44,147,260G/T—uncertain significance
rs3753150107:44,147,271C/A—uncertain significance
rs1427636487:44,147,272C/A—uncertain significance
rs7714785907:44,147,278G/A—uncertain significance
rs1413114537:44,147,299T/C—uncertain significance
rs24843407707:44,147,313T/C—likely benign
rs12856002097:44,147,392C/T—likely benign
rs7527829907:44,147,403C/G—likely benign
rs5741889837:44,147,420G/A—uncertain significance
rs1450454507:44,147,421G/A—likely benign
rs2002793827:44,147,423G/A—uncertain significance
rs3687474827:44,147,466C/T—likely benign
rs25371887:44,147,485A/C—likely benign
rs9129837567:44,147,487C/T—likely benign

Showing 100 of 442 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.