DGUOK gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol DGUOK
Gene name deoxyguanosine kinase
Chromosome 2
Chromosomal band p13
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_080916.1, NM_080916.2, NM_080918.1
Associated with diseases 617070, MTDPS3
Citation reference(s) -
Curators (0) -
Total number of public variants reported 49
Unique public DNA variants reported 44
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 2858
Entrez Gene 1716
PubMed articles DGUOK
OMIM - Gene 601465
OMIM - Diseases 617070 (Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3))
MTDPS3 (Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3))
HGMD DGUOK
GeneCards DGUOK
GeneTests DGUOK


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000092 2 transcript variant 1 NM_080916.1 NP_550438.1 49
00000093 2 transcript variant 2 NM_080918.1 NP_550440.1 49
00003342 2 transcript variant 1 NM_080916.2 NP_550438.1 49


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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