CASK gene homepage

General information
Gene symbol CASK
Gene name calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Chromosome X
Chromosomal band p11.4
Imprinted Unknown
Genomic reference NG_016754.1
Transcript reference NM_003688.3
Exon/intron information NM_003688.3 exon/intron table
Associated with diseases FGS-4, ID, MICPCH
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 80
Unique public DNA variants reported 71
Individuals with public variants 44
Hidden variants 0
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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 March 06, 2009
Date last updated October 27, 2018
Version CASK:181027

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_003688.3.
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/CASK
External URL Orphanet
HGNC 1497
Entrez Gene 8573
PubMed articles CASK
OMIM - Gene 300172
OMIM - Diseases FGS-4 (FG syndrome, type 4 (FGS-4))
MICPCH (mental retardation, microcephaly with pontine, cerebellar hypoplasia (MICPCH))
HGMD CASK
GeneCards CASK
GeneTests CASK


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000345 X transcript variant 1 NM_003688.3 NP_003679.2 80


Copyright & disclaimer
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