DPYD gene homepage

General information
Gene symbol DPYD
Gene name dihydropyrimidine dehydrogenase
Chromosome 1
Chromosomal band p22
Imprinted Not imprinted
Genomic reference LRG_722
Transcript reference NM_000110.3
Exon/intron information NM_000110.3 exon/intron table
Associated with diseases DMB-p, DPDD, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 177
Unique public DNA variants reported 46
Individuals with public variants 199
Hidden variants 1
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.
DPYD reference haplotypes
Date created April 05, 2011
Date last updated July 20, 2019
Version DPYD:190720

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_000110.3.
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 http://www.LOVD.nl/DPYD
External URL Orphanet
HGNC 3012
Entrez Gene 1806
PubMed articles DPYD
OMIM - Gene 612779
OMIM - Diseases DPDD (dihydropyrimidine dehydrogenase deficiency (DPDD))
GeneCards DPYD
GeneTests DPYD

Active transcripts




NCBI ID     

NCBI Protein ID     

00000078 1 dihydropyrimidine dehydrogenase, transcript variant 1 NM_000110.3 NP_000101.2 177

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.