The CNKSR2 gene homepage

General information
Gene symbol CNKSR2
Gene name connector enhancer of kinase suppressor of Ras 2
Chromosome X
Chromosomal band p22.12
Imprinted Unknown
Genomic reference NG_016266.1
Transcript reference NM_014927.3
Exon/intron information NM_014927.3 exon/intron table
Associated with diseases MRXSHG
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 80
Unique public DNA variants reported 76
Individuals with public variants 11
Hidden variants 12
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 February 26, 2024
Version CNKSR2:240226

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_014927.3.
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/CNKSR2
HGNC 19701
Entrez Gene 22866
PubMed articles CNKSR2
OMIM - Gene 300724
OMIM - Diseases MRXSHG (Mental retardation, X-linked, syndromic, Houge type)
HGMD CNKSR2
GeneCards CNKSR2
GeneTests CNKSR2
Orphanet CNKSR2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001121 X transcript variant 1 NM_014927.3 NP_055742.2 80


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