Varaico: Literature-Extracted Genetic Variants

Gene:CYP2C9
Variant:p.P30L
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CYP2C9

NM_000771.4:p.P30L

Associated Papers

Cytochrome P450 F-helix N204H mutation in CYP2C9.57 genetic variant reveals non-typical ligand binding properties.

Kisel M et al.

Febs Letters, 2025

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S2

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Identification of the effects of pathogenic genetic variations of human CYP2C9 and CYP2D6: an in silico approach.

Avsar O

Nucleosides, Nucleotides & Nucleic Acids, 2024

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Zhang L et al.

Clinical and Translational Science, 2020

Low-frequency variants at the CYP2C9 locus among Puerto Rican patients on warfarin: in silico predictions of functionality and conservation.

Claudio-Campos K et al.

Pharmacogenomics, 2019

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Warfarin Anticoagulation Therapy in Caribbean Hispanics of Puerto Rico: A Candidate Gene Association Study.

Claudio-Campos K et al.

Frontiers in Pharmacology, 2017

Genetic Polymorphisms and in Vitro Functional Characterization of CYP2C8, CYP2C9, and CYP2C19 Allelic Variants.

Hiratsuka M

Biological & Pharmaceutical Bulletin, 2016

Functional characterization of 32 CYP2C9 allelic variants.

Niinuma Y et al.

The Pharmacogenomics Journal, 2014

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

Polymorphisms of human cytochrome P450 2C9 and the functional relevance.

Zhou SF et al.

Toxicology, 2010

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

Tardy V et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Genetically based impairment in CYP2C8- and CYP2C9-dependent NSAID metabolism as a risk factor for gastrointestinal bleeding: is a combination of pharmacogenomics and metabolomics required to improve personalized medicine?

Agúndez JA et al.

Expert Opinion on Drug Metabolism & Toxicology, 2009

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

Menassa R et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Robins T et al.

Molecular Endocrinology (baltimore, Md.), 2006

Contribution of CYP2C9 to variability in vitamin K antagonist metabolism.

Daly AK et al.

Expert Opinion on Drug Metabolism & Toxicology, 2006

CYP2C9 haplotype structure in European American warfarin patients and association with clinical outcomes.

Veenstra DL et al.

Clinical Pharmacology and Therapeutics, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."