Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.G466D
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CYP1B1

NM_000104.4:p.G466D

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

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Yu-Wai-Man C et al.

European Journal of Human Genetics : Ejhg, 2018

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.

Yang Y et al.

Genetic Testing and Molecular Biomarkers, 2017

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

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Abu-Amero KK et al.

Molecular Vision, 2011

A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.

Chakrabarti S et al.

Human Molecular Genetics, 2010

Comparative docking studies of CYP1b1 and its PCG-associated mutant forms.

Achary MS et al.

Journal of Biosciences, 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

Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2006

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

Reddy AB et al.

Molecular Vision, 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

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."