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CYP2C9 c.515G>C ;(p.C172S)
Variant ID: 10-96707569-G-C
NM_000771.3(
CYP2C9
):c.515G>C;(p.C172S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18
Variant appearance in text: CYP2C9: 515G>C; Cys172Ser; rs147617899
PubMed Link:
35181665
Variant Present in the following documents:
41525_2022_283_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: CYP2C9: 515G>C; Cys172Ser; rs147617899
PubMed Link:
32004414
Variant Present in the following documents:
Main text
CTS-13-727.pdf
View BVdb publication page