KAT8

lysine acetyltransferase 8

Summary

This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Known Variants71 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18328239516:31,129,014G/C—uncertain significance
rs90126315716:31,129,034C/T—uncertain significance
rs89903165316:31,129,057G/C—uncertain significance
rs205745887016:31,129,078G/C—uncertain significance
rs146541068016:31,129,099G/A—uncertain significance
rs214395986616:31,129,112C/G—uncertain significance
rs20084808816:31,129,117G/A—likely benign
rs205745974216:31,129,135A/G—uncertain significance
rs254415953916:31,129,190G/C—uncertain significance
rs254415957416:31,129,199C/T—uncertain significance
rs992596416:31,129,895A/Csplice region variant—
rs197848516:31,131,121C/Tdownstream gene variant—
rs205748321916:31,131,564A/G—likely pathogenic
rs214396621116:31,131,566G/A—uncertain significance
rs214396621916:31,131,570A/G—pathogenic
rs452703416:31,131,614A/T——
rs142691117916:31,131,657C/A—uncertain significance
rs74869992116:31,131,666G/A—pathogenic
rs254416345816:31,131,668C/T—pathogenic
rs214396645416:31,131,669G/A—pathogenic
rs214396662916:31,131,745G/C—uncertain significance
rs254416377816:31,131,791C/T—pathogenic
rs2872545916:31,132,662G/C——
rs5973549316:31,133,100G/Adownstream gene variant—
rs6132075716:31,134,059G/T——
rs6099686016:31,134,213T/G——
rs36910992316:31,138,352C/G—likely benign
rs205753656316:31,138,355G/A—uncertain significance
rs76864095916:31,138,389T/A—uncertain significance
rs15040014616:31,138,409G/A—likely benign
rs205753805016:31,138,516A/G—pathogenic
rs214398561416:31,138,517A/C—likely pathogenic
rs205753816016:31,138,536G/C—pathogenic
rs254417308716:31,138,559T/C—uncertain significance
rs144707882116:31,138,562A/G—uncertain significance
rs159682379616:31,138,600A/T—uncertain significance
rs205753903316:31,138,610A/G—uncertain significance
rs75621124216:31,138,642A/C—likely pathogenic
rs205753956016:31,138,656G/T—uncertain significance
rs159682454016:31,139,386C/T—uncertain significance
rs140496739616:31,139,387G/A—uncertain significance
rs76760956716:31,139,411A/C—uncertain significance
rs53416896916:31,139,413C/T—uncertain significance
rs205754708016:31,139,414G/C—uncertain significance
rs205754742516:31,139,458A/G—uncertain significance
rs254417720116:31,141,393T/A—uncertain significance
rs78051377616:31,141,443C/T—uncertain significance
rs254417790616:31,141,594G/A—uncertain significance
rs254417792716:31,141,600C/T—uncertain significance
rs77112161616:31,141,601C/T—uncertain significance
rs254417804116:31,141,637C/A—uncertain significance
rs137365965516:31,141,640C/T—uncertain significance
rs214399559716:31,141,686G/C—uncertain significance
rs91299421916:31,141,823G/T—uncertain significance
rs154929516:31,141,826A/G—benign
rs214399627516:31,141,831C/G—uncertain significance
rs214399633616:31,141,855G/A—uncertain significance
rs154929416:31,141,880A/G—benign
rs133079102816:31,141,890C/T—uncertain significance
rs254417870216:31,141,899C/T—uncertain significance
rs254417946016:31,142,193T/G—uncertain significance
rs77175102816:31,142,233G/A—uncertain significance
rs57204324616:31,142,245C/G—conflicting classifications of pathogenicity
rs18545911316:31,142,246G/A—likely benign
rs75497925916:31,142,252G/A—uncertain significance
rs53128726016:31,142,255G/C—uncertain significance
rs139593793916:31,142,269A/G—likely benign
rs1785560616:31,142,271A/G—benign
rs20133097116:31,142,275A/T—likely benign
rs205757387816:31,142,279G/A—uncertain significance
rs147183043616:31,142,303C/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.