Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.P193L
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CYP1B1

NM_000104.4:p.P193L

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

Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.

Yadav M et al.

Japanese Journal of Ophthalmology, 2025

In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence.

Gupta V et al.

Indian Journal of Ophthalmology, 2024

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

Genetics and Glaucoma: the state of the art.

Tirendi S et al.

Frontiers in Medicine, 2023

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

Banerjee A et al.

Plos One, 2016

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.

Badeeb OM et al.

Bmc Medical Genetics, 2014

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

Sturge-Weber syndrome with congenital glaucoma and cytochrome P450 (CYP1B1) gene mutations.

Tanwar M et al.

Journal of Glaucoma, 2010

CYP1B1, a developmental gene with a potential role in glaucoma therapy.

Choudhary D et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2009

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E et al.

Molecular Vision, 2009

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

Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes.

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2007

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A et al.

Molecular Vision, 2007

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

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2006

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

Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.

Reddy AB et al.

Investigative Ophthalmology & Visual Science, 2003

Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

Panicker SG et al.

Investigative Ophthalmology & Visual Science, 2002

Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma.

Berraho A et al.

Journal of Glaucoma, 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."