The DOCK8 gene homepage

General information
Gene symbol DOCK8
Gene name dedicator of cytokinesis 8
Chromosome 9
Chromosomal band p24.3
Imprinted Unknown
Genomic reference LRG_196
Transcript reference NM_203447.3
Exon/intron information NM_203447.3 exon/intron table
Associated with diseases HIES2, ID, MRD-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 206
Unique public DNA variants reported 164
Individuals with public variants 397
Hidden variants 51
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated March 05, 2021
Version DOCK8:210305

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_203447.3.
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 https://www.LOVD.nl/DOCK8
HGNC 19191
Entrez Gene 81704
PubMed articles DOCK8
OMIM - Gene 611432
OMIM - Diseases HIES2 (hyper-IgE recurrent infection syndrome, autosomal recessive (HIES2))
MRD-2 (mental retardation, autosomal dominant, type 2 (MRD-2))
HGMD DOCK8
GeneCards DOCK8
GeneTests DOCK8
Orphanet DOCK8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025575 9 transcript variant 1 NM_203447.3 NP_982272.2 206


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