The DGUOK gene homepage

General information
Gene symbol DGUOK
Gene name deoxyguanosine kinase
Chromosome 2
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_008044.1
Transcript reference NM_080916.1
Exon/intron information NM_080916.1 exon/intron table
Associated with diseases MTDPS-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 25
Unique public DNA variants reported 15
Individuals with public variants 109
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated September 15, 2020
Version DGUOK:200915

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_080916.1.
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
External URL Orphanet
HGNC 2858
Entrez Gene 1716
PubMed articles DGUOK
OMIM - Gene 601465
OMIM - Diseases MTDPS-3 (mitochondrial DNA depletion syndrome (hepatocerebral), type 3 (MTDPS-3))
GeneCards DGUOK
GeneTests DGUOK
Orphanet DGUOK

Active transcripts




NCBI ID     

NCBI Protein ID     

00000172 2 deoxyguanosine kinase, transcript variant 1 NM_080916.1 NP_550438.1 25

Copyright & disclaimer
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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.