CYP2D6 gene homepage

CYP2D6 reference haplotypes. Download the current CYP2D6 DRAFT reference haplotype list (ver.2015-07-24).
NOTE: the coding DNA reference sequence represents haplotype CYP2D6*1 which differs from the reference genome sequence (build hg19). For the coding region the differences include c.408C>G, c.886T>C and c.1457C>G.
General information
Gene symbol CYP2D6
Gene name cytochrome P450, family 2, subfamily D, polypeptide 6
Chromosome 22
Chromosomal band q13.1
Imprinted Not imprinted
Genomic reference LRG_303
Transcript reference NM_000106.4, NM_000106.5
Exon/intron information NM_000106.4 exon/intron table, NM_000106.5 exon/intron table
Associated with diseases DMB-CYP2D6, DMB-p
Citation reference(s) -
Curators (2) Andrea Gaedigk and Lisa Kalman
Total number of public variants reported 2628
Unique public DNA variants reported 271
Individuals with public variants 445
Hidden variants 6
Download all this gene's data Download all data
Notes CYP2D6 reference haplotypes. Download the current CYP2D6 DRAFT reference haplotype list (ver.2015-07-24).
Date created May 03, 2013
Date last updated March 05, 2019
Version CYP2D6:190305

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_000106.4, NM_000106.5.
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/CYP2D6
External URL Human Cytochrome P450 (CYP) Allele Nomenclature Committee
PharmGKB CYP2D6
SuperCYP Cytochrome P450 database
HGNC 2625
Entrez Gene 1565
PubMed articles CYP2D6
OMIM - Gene 124030
OMIM - Diseases DMB-CYP2D6 (metabolism, drug, poor/rapid)
HGMD CYP2D6
GeneCards CYP2D6
GeneTests CYP2D6


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023855 22 transcript variant 1 NM_000106.4 NP_000097.2 2628
00025388 22 transcript variant 1 NM_000106.5 NP_000097.3 2


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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.