The KAT6A gene homepage

General information
Gene symbol KAT6A
Gene name K(lysine) acetyltransferase 6A
Chromosome 8
Chromosomal band p11
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_006766.3
Exon/intron information NM_006766.3 exon/intron table
Associated with diseases ARTHS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 95
Unique public DNA variants reported 84
Individuals with public variants 16
Hidden variants 13
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated February 26, 2024
Version KAT6A:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006766.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/KAT6A
HGNC 13013
Entrez Gene 7994
PubMed articles KAT6A
OMIM - Gene 601408
OMIM - Diseases ARTHS (MRD32)
HGMD KAT6A
GeneCards KAT6A
GeneTests KAT6A
Orphanet KAT6A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010304 8 transcript variant 3 NM_006766.3 NP_006757.2 95


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