Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.S239R
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CYP1B1

NM_000104.4:p.S239R

Associated Papers

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

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

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

Chakrabarti S et al.

Human Molecular Genetics, 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

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

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

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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