The KANSL1 gene homepage

General information
Gene symbol KANSL1
Gene name KAT8 regulatory NSL complex subunit 1
Chromosome 17
Chromosomal band q21.31
Imprinted Unknown
Genomic reference NG_032784.1
Transcript reference NM_001193466.1
Exon/intron information NM_001193466.1 exon/intron table
Associated with diseases ID, KDVS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Giuseppe Marangi
Total number of public variants reported 120
Unique public DNA variants reported 97
Individuals with public variants 70
Hidden variants 18
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 31, 2012
Date last updated April 16, 2023
Version KANSL1:230416

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_001193466.1.
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
HGNC 24565
Entrez Gene 284058
PubMed articles KANSL1
OMIM - Gene 612452
OMIM - Diseases KDVS (Koolen-De Vries syndrome (KDVS, 17q21.31 deletion syndrome))
GeneCards KANSL1
GeneTests KANSL1
Orphanet KANSL1

Active transcripts




NCBI ID     

NCBI Protein ID     

00024084 17 transcript variant 1 NM_001193466.1 NP_001180395.1 120

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