Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.G365W
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CYP1B1

NM_000104.4:p.G365W

Associated Papers

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

Heme-thiolate monooxygenase cytochrome P450 1B1, an old dog with many new tricks.

Kim JW et al.

Pharmacological Reviews, 2025

Human Cytochrome P450 1, 2, 3 Families as Pharmacogenes with Emphases on Their Antimalarial and Antituberculosis Drugs and Prevalent African Alleles.

Chamboko CR et al.

International Journal of Molecular Sciences, 2023

36834793 (PubMed )
Supplement: ijms-24-03383-s001.zip › ijms-2130595-supplementary.pdf

Genetics and Glaucoma: the state of the art.

Tirendi S et al.

Frontiers in Medicine, 2023

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Shahid M et al.

Peerj, 2022

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

34621706 (PubMed )
Supplement: tcp-29-135-s001.xls › tcp-29-135-s001

Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype.

Song N et al.

International Journal of Ophthalmology, 2019

MutaCYP: Classification of missense mutations in human cytochromes P450.

Fechter K et al.

Bmc Medical Genomics, 2014

25073475 (PubMed )
Supplement: 1755-8794-7-47-S1.docx

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

Li N et al.

Experimental Eye Research, 2011

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 2011

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Chavarria-Soley G et al.

Human Mutation, 2008

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.

Choudhary D et al.

Pharmacogenetics and Genomics, 2008

Metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) by human CYP1B1 genetic variants.

Han JF et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2008

Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.

Panicker SG et al.

Investigative Ophthalmology & Visual Science, 2004

[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].

Koraszewska-Matuszewska B et al.

Klinika Oczna, 2004

Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol.

Mammen JS et al.

Carcinogenesis, 2003

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

Sitorus R et al.

Journal of Medical Genetics, 2003

Cytochrome P450 1B1, a new keystone in gene-environment interactions related to human head and neck cancer?

Thier R et al.

Archives of Toxicology, 2002

Cytochrome P450 1B1 and Primary Congenital Glaucoma.

Zhao Y et al.

Journal of Ophthalmic & Vision Research, 0

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

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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."