The DOK7 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol DOK7
Gene name docking protein 7
Chromosome 4
Chromosomal band p16.2
Imprinted Unknown
Genomic reference NG_013072.2
Transcript reference NM_173660.4
Exon/intron information NM_173660.4 exon/intron table
Associated with diseases CMS10, FADS, FADS3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) David Beeson, Tom Winder and Johan den Dunnen
Total number of public variants reported 555
Unique public DNA variants reported 155
Individuals with public variants 300
Hidden variants 26
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created January 01, 2010
Date last updated February 08, 2021
Version DOK7:210208

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_173660.4.
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 26594
Entrez Gene 285489
PubMed articles DOK7
OMIM - Gene 610285
OMIM - Diseases CMS10 (myasthenic syndrome, congenital, type 10 (CMS-10))
FADS3 (akinesia, fetal, deformation sequence, type 3 (FADS3))
GeneCards DOK7
GeneTests DOK7
Orphanet DOK7

Active transcripts




NCBI ID     

NCBI Protein ID     

00006631 4 transcript variant 1 NM_173660.4 NP_775931.3 555

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 © 2010-2021. 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.