Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.D192V
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CYP1B1

NM_000104.4:p.D192V

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

Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

Fuse N et al.

Japanese 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

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

Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

Fuse N et al.

Japanese Journal of Ophthalmology, 2010

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

[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

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

Sitorus R et al.

Journal of Medical Genetics, 2003

Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.

Mashima Y et al.

Investigative Ophthalmology & Visual Science, 2001

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."