TFAP2B

transcription factor AP-2 beta

Summary

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]

Known Variants125 total

rsidPosition (GRCh37)AllelesClassClinVar
rs27444756:50,784,880C/T——
rs22062716:50,786,008T/Aupstream gene variant—
rs22729036:50,786,571G/A—benign
rs21139204096:50,786,607G/A—likely pathogenic
rs3716086146:50,786,652T/G—likely benign
rs13770784996:50,786,670C/G—likely pathogenic
rs1482621876:50,786,679C/G—uncertain significance
rs46280866:50,787,357C/Aregulatory region variant—
rs37985196:50,788,778A/Cintron variant—
rs28574826:50,790,642C/Tintron variant—
rs7659593036:50,791,110C/G—likely benign
rs15818090856:50,791,116C/A—likely benign
rs9598190796:50,791,128C/T—likely benign
rs7525481546:50,791,130A/G—uncertain significance
rs7775954596:50,791,135G/A—uncertain significance
rs7459346936:50,791,154G/C—uncertain significance
rs3678430466:50,791,155G/A—likely benign
rs7474036506:50,791,158C/G—likely benign
rs7768359536:50,791,164G/C—uncertain significance
rs3759174956:50,791,199C/G—uncertain significance
rs25331076406:50,791,205C/A—uncertain significance
rs13589389926:50,791,217C/A—uncertain significance
rs21139293356:50,791,237C/T—uncertain significance
rs17704148536:50,791,241C/T—uncertain significance
rs803389106:50,791,256C/Gmissense variantpathogenic
rs752794096:50,791,290C/T—benign
rs25331081546:50,791,294T/A—uncertain significance
rs7498533496:50,791,431G/C—uncertain significance
rs1399044146:50,791,444G/C—uncertain significance
rs9219630856:50,791,446C/G—uncertain significance
rs7650641826:50,791,456G/C—uncertain significance
rs3776400326:50,791,467G/T—likely benign
rs132167336:50,791,482C/A—not provided
rs7678059446:50,791,483G/T—uncertain significance
rs11799600176:50,791,515C/T—likely benign
rs8860615656:50,791,560C/G—likely benign
rs7794951556:50,791,575C/T—likely benign
rs21139302326:50,791,578G/A—uncertain significance
rs728906756:50,791,588A/G—benign
rs5523935766:50,791,592A/G—benign
rs20763086:50,791,640G/C—benign
rs8792538706:50,796,330A/T—pathogenic
rs25331235446:50,796,336T/C—uncertain significance
rs3738976546:50,796,353A/G—conflicting classifications of pathogenicity
rs25331236386:50,796,354G/A—uncertain significance
rs25331238506:50,796,386A/T—likely pathogenic
rs25331238796:50,796,393G/A—pathogenic
rs21139379866:50,796,394T/A—likely pathogenic
rs803389116:50,796,397G/A—pathogenic
rs14614033956:50,796,407C/T—likely benign
rs7609006:50,796,634A/G—benign
rs624054226:50,796,905T/Cintron variant—
rs22062776:50,798,526C/Tintron variant—
rs9872376:50,803,050A/Gintron variant—
rs1498157836:50,803,785C/T—uncertain significance
rs17626165936:50,803,812A/G—uncertain significance
rs17626170236:50,803,827C/A—uncertain significance
rs1411292226:50,803,842G/A—conflicting classifications of pathogenicity
rs21139498006:50,803,863T/C—uncertain significance
rs803389126:50,803,878C/Amissense variantpathogenic
rs13251255316:50,803,879G/A—likely pathogenic
rs21139498536:50,803,892C/G—likely benign
rs25331435156:50,803,929G/T—uncertain significance
rs28173946:50,803,944T/G—not provided
rs1994987776:50,803,973C/T—likely benign
rs25331436746:50,803,977G/A—uncertain significance
rs12617974466:50,803,983G/C—uncertain significance
rs7533514396:50,804,006C/T—likely benign
rs28173996:50,804,521A/Gintron variant—
rs803389166:50,805,687G/C—not provided
rs803389146:50,805,690C/Amissense variantpathogenic
rs21139526206:50,805,693A/G—likely pathogenic
rs10575189476:50,805,696C/G—uncertain significance
rs14741521106:50,805,719C/T—pathogenic
rs803389156:50,805,720G/Amissense variantpathogenic
rs7776872546:50,805,727G/C—uncertain significance
rs7495940826:50,805,730A/G—likely benign
rs25331483776:50,805,738T/C—uncertain significance
rs803389176:50,805,764C/Tmissense variantpathogenic
rs25331484876:50,805,765G/A—likely pathogenic
rs12321976746:50,805,783C/T—uncertain significance
rs8984378076:50,805,784G/C—likely benign
rs3750518056:50,805,818G/A—likely benign
rs28174046:50,805,942T/G—benign
rs7727907106:50,807,897T/G—uncertain significance
rs13625563506:50,807,899G/C—uncertain significance
rs7661571256:50,807,904A/C—uncertain significance
rs7592396066:50,807,909C/A—likely pathogenic
rs11903436106:50,807,910G/C—uncertain significance
rs1402108996:50,807,925G/A—uncertain significance
rs14319134326:50,807,933C/T—likely benign
rs1393393326:50,807,934G/A—benign
rs17626995676:50,807,955C/G—uncertain significance
rs3720700426:50,807,966C/A—uncertain significance
rs25331536166:50,807,985C/G—uncertain significance
rs17627014076:50,808,026T/C—likely benign
rs47152076:50,809,278C/Tintron variant—
rs37985266:50,809,787A/Gintron variant—
rs15697786:50,810,497T/C—benign
rs1510017536:50,810,826G/C—benign

Showing 100 of 125 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.