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CYP2C19 c.373C>T ;(p.R125C)
Variant ID: 10-96535188-C-T
NM_000769.1(
CYP2C19
):c.373C>T;(p.R125C)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: CYP2C19: 373C>T; Arg125Cys
PubMed Link:
36923788
Variant Present in the following documents:
Table3.xlsx, sheet 1
View BVdb publication page
Comprehensive in vitro and in silico assessments of metabolic capabilities of 24 genomic variants of CYP2C19 using two different substrates.
Frontiers In Pharmacology
Seo, Myung-Eui ME; Min, Byung-Joo BJ; Heo, Nayoon N; Lee, Kye Hwa KH; Kim, Ju Han JH
Publication Date: 2023
Variant appearance in text: CYP2C19: 373C>T; Arg125Cys; rs200150287
PubMed Link:
36713839
Variant Present in the following documents:
Main text
fphar-14-1055991.pdf
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: CYP2C19: 373C>T; Arg125Cys; rs200150287
PubMed Link:
36068297
Variant Present in the following documents:
41397_2022_288_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.
Clinical And Translational Science
Zhang, Lingxin L; Sarangi, Vivekananda V; Moon, Irene I; Yu, Jia J; Liu, Duan D; Devarajan, Sandhya S; Reid, Joel M JM; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard R
Publication Date: 2020-07
Variant appearance in text: CYP2C19: 373C>T; Arg125Cys; rs200150287
PubMed Link:
32004414
Variant Present in the following documents:
Main text
CTS-13-727.pdf
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs200150287
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page