CYP2D6 c.125G>A ;(p.G42E)

Variant ID: 22-42526669-C-T

NM_000106.5(CYP2D6):c.125G>A;(p.G42E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: CYP2D6: 125G>A; Gly42Glu
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal
Zhou, Yitian Y; Lauschke, Volker M VM
Publication Date: 2022-12

Variant appearance in text: CYP2D6: 125G>A; Gly42Glu; rs118203758
PubMed Link: 36068297
Variant Present in the following documents:
  • 41397_2022_288_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Molecular Genetics & Genomic Medicine
Chen, Zhanhong Z; Sun, Tian T; Yang, Ziyan Z; Zheng, Yabing Y; Yu, Ruoying R; Wu, Xue X; Yan, Junrong J; Shao, Yang W YW; Shao, Xiying X; Cao, Wenming W; Wang, Xiaojia X
Publication Date: 2020-02

Variant appearance in text: CYP2D6: 125G>A; G42E
PubMed Link: 31867841
Variant Present in the following documents:
  • MGG3-8-e1079-s004.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CYP2D6: 125G>A; Gly42Glu; rs118203758
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes.

Nature Communications
Numanagić, Ibrahim I; Malikić, Salem S; Ford, Michael M; Qin, Xiang X; Toji, Lorraine L; Radovich, Milan M; Skaar, Todd C TC; Pratt, Victoria M VM; Berger, Bonnie B; Scherer, Steve S; Sahinalp, S Cenk SC
Publication Date: 2018-02-26

Variant appearance in text: CYP2D6: 125G>A
PubMed Link: 29483503
Variant Present in the following documents:
  • 41467_2018_3273_MOESM1_ESM.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: CYP2D6: G42E
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page