The ADCK3 gene homepage

NOTE: gene symbol was recently changed from ADCK3 to COQ8A.
General information
Gene symbol ADCK3
Gene name aarF domain containing kinase 3
Chromosome 1
Chromosomal band q42.11
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_020247.4
Exon/intron information NM_020247.4 exon/intron table
Associated with diseases COQ10D4, ID, SCAR9
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 115
Unique public DNA variants reported 76
Individuals with public variants 70
Hidden variants 10
Download all this gene's data Download all data
Notes NOTE: gene symbol was recently changed from ADCK3 to COQ8A.
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 May 09, 2022
Version ADCK3:220509

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_020247.4.
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 http://www.LOVD.nl/C08QA
HGNC 16812
Entrez Gene 56997
PubMed articles ADCK3
OMIM - Gene 606980
OMIM - Diseases COQ10D4 (SCAR9)
HGMD ADCK3
GeneCards ADCK3
GeneTests ADCK3
Orphanet ADCK3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002125 1 aarF domain containing kinase 3 NM_020247.4 NP_064632.2 115


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