The KDM6A gene homepage

General information
Gene symbol KDM6A
Gene name lysine (K)-specific demethylase 6A
Chromosome X
Chromosomal band p11.2
Imprinted Not imprinted
Genomic reference NG_016260.1
Transcript reference NM_021140.2
Exon/intron information NM_021140.2 exon/intron table
Associated with diseases ID, KABUK, KABUK2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 185
Unique public DNA variants reported 142
Individuals with public variants 137
Hidden variants 18
Download all this gene's data Download all data
Notes We gratefully acknowledge Aimée Paulussen for acting as a curator untill 2016.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 17, 2010
Date last updated February 26, 2024
Version KDM6A: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_021140.2.
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 http://www.LOVD.nl/KDM6A
HGNC 12637
Entrez Gene 7403
PubMed articles KDM6A
OMIM - Gene 300128
OMIM - Diseases KABUK2 (Kabuki syndrome, type 2 (KABUK2))
HGMD KDM6A
GeneCards KDM6A
GeneTests KDM6A
Orphanet KDM6A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000812 X lysine (K)-specific demethylase 6A NM_021140.2 NP_066963.2 185


Copyright & disclaimer
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