The PRKD1 gene homepage

General information
Gene symbol PRKD1
Gene name protein kinase D1
Chromosome 14
Chromosomal band q11
Imprinted Unknown
Genomic reference NC_000014.8
Transcript reference NM_002742.2
Exon/intron information NM_002742.2 exon/intron table
Associated with diseases CHDED
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 24
Unique public DNA variants reported 20
Individuals with public variants 7
Hidden variants 5
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 November 27, 2023
Version PRKD1:231127

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_002742.2.
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/PRKD1
HGNC 9407
Entrez Gene 5587
PubMed articles PRKD1
OMIM - Gene 605435
OMIM - Diseases CHDED (heart defects, congenital and ectodermal dysplasia (CHDED))
HGMD PRKD1
GeneCards PRKD1
GeneTests PRKD1
Orphanet PRKD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016845 14 protein kinase D1 NM_002742.2 NP_002733.2 24


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