KAT6B

lysine acetyltransferase 6B

Summary

The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

Known Variants1,024 total

rsidPosition (GRCh37)AllelesClassClinVar
rs55817208910:76,598,491C/T—likely benign
rs1100117810:76,601,805T/G——
rs254833265310:76,602,614C/T—uncertain significance
rs254833268010:76,602,616A/G—likely pathogenic
rs123007533510:76,602,642T/C—likely benign
rs254833294710:76,602,663T/C—likely benign
rs254833298410:76,602,669G/A—likely benign
rs74847948510:76,602,681G/A—likely benign
rs116700927210:76,602,701A/T—conflicting classifications of pathogenicity
rs213207178210:76,602,717T/G—uncertain significance
rs77299710310:76,602,719C/T—benign
rs77054515610:76,602,724A/G—uncertain significance
rs77402285210:76,602,727A/G—conflicting classifications of pathogenicity
rs136772517610:76,602,734A/G—conflicting classifications of pathogenicity
rs75947926210:76,602,736G/A—conflicting classifications of pathogenicity
rs254833354010:76,602,745A/T—likely pathogenic
rs104182735110:76,602,762A/G—likely benign
rs254833366010:76,602,770A/C—uncertain significance
rs124855139210:76,602,775A/G—uncertain significance
rs76639428410:76,602,813A/G—likely benign
rs213207248810:76,602,837A/G—likely benign
rs254833401410:76,602,843C/T—likely benign
rs254833429710:76,602,894G/C—uncertain significance
rs37002807910:76,602,896G/A—conflicting classifications of pathogenicity
rs56903884710:76,602,897G/A—likely benign
rs74890134810:76,602,906A/G—likely benign
rs254833446310:76,602,907T/A—uncertain significance
rs254833448010:76,602,908C/T—uncertain significance
rs254833453110:76,602,914A/G—conflicting classifications of pathogenicity
rs120661464410:76,602,919C/A—uncertain significance
rs37454996610:76,602,922C/T—conflicting classifications of pathogenicity
rs77393158310:76,602,923G/T—uncertain significance
rs184186125310:76,602,925A/T—uncertain significance
rs77166897710:76,602,926A/G—likely benign
rs254833475310:76,602,933T/C—likely benign
rs137126645410:76,602,953G/A—uncertain significance
rs14701391110:76,602,969T/C—likely benign
rs37734633210:76,602,970G/C—uncertain significance
rs19981202010:76,602,976C/T—uncertain significance
rs20182889610:76,602,977C/T—uncertain significance
rs75666832010:76,602,978G/A—likely benign
rs128750660610:76,602,980A/G—conflicting classifications of pathogenicity
rs254833522210:76,602,983G/T—uncertain significance
rs4131499810:76,602,990C/T—likely benign
rs184186795310:76,602,991C/A—uncertain significance
rs77869489210:76,603,000A/G—uncertain significance
rs254833537710:76,603,002A/G—uncertain significance
rs213207404610:76,603,003G/A—uncertain significance
rs77144971710:76,603,005G/T—uncertain significance
rs254833544110:76,603,007A/G—uncertain significance
rs77966205010:76,603,038C/G—conflicting classifications of pathogenicity
rs105483601510:76,603,040C/T—conflicting classifications of pathogenicity
rs141515037910:76,603,042A/G—conflicting classifications of pathogenicity
rs37023646810:76,603,043C/T—uncertain significance
rs254833566510:76,603,046A/C—uncertain significance
rs74686900810:76,603,056C/G—likely benign
rs132891237010:76,603,066C/A—likely benign
rs76160620410:76,603,067G/A—uncertain significance
rs156451608710:76,603,072C/T—conflicting classifications of pathogenicity
rs56299627610:76,603,075C/G—uncertain significance
rs14363042710:76,603,080G/A—likely benign
rs143573194410:76,603,081G/A—likely benign
rs254833593810:76,603,082C/T—uncertain significance
rs18460901810:76,603,089C/T—likely benign
rs254833605810:76,603,091C/G—uncertain significance
rs57650598210:76,603,119C/T—likely benign
rs77937395010:76,603,124C/G—uncertain significance
rs75002072510:76,603,125G/A—likely benign
rs184187746110:76,603,128G/A—likely benign
rs37455798210:76,603,134G/A—likely benign
rs254833635810:76,603,142A/G—benign
rs213207519210:76,603,145G/A—uncertain significance
rs254833646910:76,603,148G/T—uncertain significance
rs254833654610:76,603,156G/A—uncertain significance
rs37547267910:76,603,165G/A—uncertain significance
rs127968636810:76,603,167A/C—likely benign
rs254833681410:76,603,180A/T—uncertain significance
rs37431835110:76,603,184C/T—uncertain significance
rs184188253810:76,603,185A/G—likely benign
rs254833691010:76,603,188C/G—likely benign
rs102833303010:76,603,192T/C—uncertain significance
rs254833694810:76,603,194C/A—likely benign
rs76082448610:76,603,196C/T—conflicting classifications of pathogenicity
rs76433579210:76,603,197G/A—likely benign
rs213207578510:76,603,201C/G—uncertain significance
rs254833705610:76,603,204C/G—uncertain significance
rs254833706410:76,603,207G/C—benign
rs91355990810:76,603,218A/G—likely benign
rs76606428410:76,603,224T/C—likely benign
rs75445769210:76,603,242C/T—conflicting classifications of pathogenicity
rs37730430810:76,603,243G/A—likely benign
rs78119727210:76,603,253T/C—likely benign
rs14807517910:76,603,276C/A—likely benign
rs15023077610:76,603,290C/T—likely benign
rs13878240310:76,603,291G/A—likely benign
rs1100117910:76,603,482C/T—benign
rs1100118010:76,603,535G/A—benign
rs1693179310:76,633,664G/Aintron variant—
rs213283719810:76,665,886A/G—uncertain significance
rs53136020410:76,666,919T/A—benign

Showing 100 of 1,024 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.