Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional characterization of CYP2D7 gene variants.

Pharmacogenomics - 1 Aug 2018

Jukic Marin M, Lauschke Volker M, Saito Takahiro, Hiratsuka Masahiro, Ingelman-Sundberg Magnus

Abstract excerpt

The ultrarapid CYP2D6 metabolizer (UM) phenotype is caused by CYP2D6 gene duplications in some, but not all, UM individuals. CYP2D6 and the adjacent pseudogene CYP2D7 are highly homologous; however, CYP2D7 harbors a premature stop codon, which is absent in carriers of the rare CYP2D7 variant rs530303678. We addressed whether rs530303678 could generate a functionally active protein, causing the UM phenotype....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amino Acid Sequence

Share to Cell Line

Share to Cytochrome P-450 Enzyme System

Share to Genetic Variation

Source

Identifiers

PMID: 30040020
DOI: 10.2217/pgs-2018-0065

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional characterization of CYP2D7 gene variants.PMID 30040020Read ↗

In vitro functional assessment of 22 newly identified CYP2D6 allelic variants in the Chinese population.Semantic proximity Read ↗

Cloning and sequencing of a new non-functional CYP2D6 allele: deletion of T1795 in exon 3 generates a premature stop codon.Semantic proximity Read ↗

Discovery of novel functional variants and extensive evaluation of CYP2D6 genetic polymorphisms in Koreans.Semantic proximity Read ↗

Expression and functional analysis of CYP2D6.24, CYP2D6.26, CYP2D6.27, and CYP2D7 isozymes.Semantic proximity Read ↗

Discovery of the nonfunctional CYP2D6 31 allele in Spanish, Puerto Rican, and US Hispanic populations.Semantic proximity Read ↗

Tri-Allelic Haplotypes Determine and Differentiate Functionally Normal Allele CYP2D6*2 and Impaired Allele CYP2D6*41.Semantic proximity Read ↗

Polymorphisms in CYP2D6 duplication-negative individuals with the ultrarapid metabolizer phenotype: a role for the CYP2D6*35 allele in ultrarapid metabolism?Semantic proximity Read ↗

Human CYP7A1 deficiency: progress and enigmas.Semantic proximity Read ↗

Identification and drug metabolic activity evaluation of 12 CYP2D6 allelic variants newly detected in the Chinese population.Semantic proximity Read ↗

CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein?Semantic proximity Read ↗

Genetic polymorphisms analysis of CYP2D6 in the Uygur population.Semantic proximity Read ↗

A rare G2061 insertion affecting the open reading frame of CYP2D6 and responsible for the poor metabolizer phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.