CHEK2 gene homepage

General information
Gene symbol CHEK2
Gene name checkpoint kinase 2
Chromosome 22
Chromosomal band q12.1
Imprinted Unknown
Genomic reference NG_008150.1
Transcript reference NM_007194.3
Exon/intron information NM_007194.3 exon/intron table
Associated with diseases cancer, prostate, LFS-2, cancer, breast, familial, osteosarcoma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 386
Unique public DNA variants reported 199
Individuals with public variants 2585
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 30, 2019
Version CHEK2:190930

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_007194.3.
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 http://www.LOVD.nl/CHEK2
HGNC 16627
Entrez Gene 11200
PubMed articles CHEK2
OMIM - Gene 604373
OMIM - Diseases cancer, prostate
LFS-2 (Li-Fraumeni syndrome, type 2 (LFS-2))
cancer, breast, familial
osteosarcoma
HGMD CHEK2
GeneCards CHEK2
GeneTests CHEK2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024043 22 CHK2 checkpoint homolog (S. pombe), transcript variant 1 NM_007194.3 NP_009125.1 386


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.