CREBBP

CREB binding lysine acetyltransferase

Summary

This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]

Known Variants1,771 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76676111816:3,776,790T/C—uncertain significance
rs223014016:3,777,697A/G—benign
rs74802497316:3,777,722C/T—benign
rs124987188716:3,777,734A/G—likely benign
rs89560888916:3,777,737C/A—uncertain significance
rs14460943316:3,777,746C/T—likely benign
rs215129794716:3,777,748T/C—uncertain significance
rs58778351416:3,777,755C/T—likely benign
rs77269040116:3,777,756G/A—likely benign
rs159678021416:3,777,758G/T—likely benign
rs76113845316:3,777,766C/G—uncertain significance
rs76439635416:3,777,767G/A—benign
rs75004764416:3,777,771A/T—uncertain significance
rs37544813416:3,777,776C/A—likely benign
rs76753216816:3,777,782G/C—uncertain significance
rs102759639616:3,777,791C/T—likely benign
rs20056675816:3,777,792G/A—likely benign
rs36829761116:3,777,793C/T—likely benign
rs205178571116:3,777,797C/T—uncertain significance
rs155547075816:3,777,803G/A—likely benign
rs74944860716:3,777,805G/A—uncertain significance
rs75753920916:3,777,809G/A—likely benign
rs74599297116:3,777,812C/T—likely benign
rs96612334216:3,777,821G/A—benign
rs138773315016:3,777,824C/T—uncertain significance
rs37200528016:3,777,826T/C—conflicting classifications of pathogenicity
rs215129853716:3,777,835G/C—uncertain significance
rs5591612016:3,777,836C/T—likely benign
rs86322333416:3,777,838C/T—uncertain significance
rs5606040016:3,777,839G/A—likely benign
rs137999962016:3,777,841G/C—conflicting classifications of pathogenicity
rs215129860816:3,777,844T/C—uncertain significance
rs205178742416:3,777,845C/A—likely benign
rs116362853616:3,777,850A/G—benign
rs37586498416:3,777,851G/A—likely benign
rs36921551916:3,777,853G/A—conflicting classifications of pathogenicity
rs77396823116:3,777,854T/C—likely benign
rs75904753016:3,777,864A/G—conflicting classifications of pathogenicity
rs93431760316:3,777,866G/A—conflicting classifications of pathogenicity
rs76696234416:3,777,870C/G—likely benign
rs93652818316:3,777,871T/C—uncertain significance
rs135264444916:3,777,877T/C—uncertain significance
rs75262685916:3,777,884T/C—likely benign
rs75601186516:3,777,886C/T—conflicting classifications of pathogenicity
rs135438874216:3,777,887G/C—likely benign
rs117188947716:3,777,892C/T—uncertain significance
rs76394894616:3,777,893G/A—likely benign
rs37339937716:3,777,899G/T—likely benign
rs117694189216:3,777,902G/A—likely benign
rs215129899916:3,777,906C/A—uncertain significance
rs75744648416:3,777,912T/G—uncertain significance
rs86660000016:3,777,922C/T—benign
rs74611631516:3,777,923G/A—conflicting classifications of pathogenicity
rs254834198816:3,777,925G/A—uncertain significance
rs205179051316:3,777,930G/A—uncertain significance
rs75845475116:3,777,932C/T—likely benign
rs104831448216:3,777,933G/A—uncertain significance
rs159678092616:3,777,937G/T—uncertain significance
rs215129919616:3,777,938C/A—uncertain significance
rs78001169116:3,777,941G/C—likely benign
rs122552820116:3,777,942G/A—uncertain significance
rs74577051316:3,777,943G/T—uncertain significance
rs58778351316:3,777,950C/G—likely benign
rs19961081416:3,777,959C/T—likely benign
rs215129938816:3,777,966G/C—uncertain significance
rs117930862016:3,777,985G/A—uncertain significance
rs75912803516:3,777,986G/A—likely benign
rs142375254716:3,777,990C/T—likely benign
rs76064424116:3,778,007G/A—likely benign
rs18234757316:3,778,008G/A—conflicting classifications of pathogenicity
rs215129967316:3,778,009C/T—uncertain significance
rs75359518316:3,778,017C/T—uncertain significance
rs129967221016:3,778,018G/A—likely benign
rs88639977716:3,778,020A/C—uncertain significance
rs139540780716:3,778,025G/C—uncertain significance
rs76503769216:3,778,030T/C—uncertain significance
rs37769251816:3,778,037C/T—likely benign
rs37360729516:3,778,038G/A—uncertain significance
rs54381118516:3,778,042C/T—conflicting classifications of pathogenicity
rs75164074516:3,778,043G/A—likely benign
rs205179429416:3,778,046C/G—likely benign
rs37701826716:3,778,051G/T—likely benign
rs106479653116:3,778,060G/Cmissense variantuncertain significance
rs156725978716:3,778,065G/A—uncertain significance
rs99628007216:3,778,076C/T—likely benign
rs215130011316:3,778,078G/A—uncertain significance
rs74553305216:3,778,079T/C—likely benign
rs215130020116:3,778,089A/G—uncertain significance
rs58777821516:3,778,092T/A—conflicting classifications of pathogenicity
rs76014036616:3,778,095T/G—conflicting classifications of pathogenicity
rs215130027816:3,778,099G/C—uncertain significance
rs159678145616:3,778,103G/A—likely benign
rs14972339516:3,778,115C/T—benign
rs76175142816:3,778,116G/A—benign
rs76494468116:3,778,118C/A—conflicting classifications of pathogenicity
rs14555145116:3,778,121G/T—likely benign
rs205179675616:3,778,122C/T—uncertain significance
rs215130046616:3,778,123C/T—uncertain significance
rs215130055016:3,778,134A/G—uncertain significance
rs128316383416:3,778,139C/T—likely benign

Showing 100 of 1,771 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.