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CYP2C19 c.753C>G ;(p.H251Q)
Variant ID: 10-96541688-C-G
NM_000769.1(
CYP2C19
):c.753C>G;(p.H251Q)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 753C>G; His251Gln; rs148247410
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: 753C>G; H251Q; rs148247410
PubMed Link:
32004414
Variant Present in the following documents:
Main text
CTS-13-727.pdf
View BVdb publication page
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: CYP2C19: H251Q
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 32
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: rs148247410
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page