Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.W57C
Back to variants list

CYP1B1

NM_000104.4:p.W57C

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

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

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

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

36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › PANTHER

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

Song N et al.

International Journal of Ophthalmology, 2019

Cyp1b1 Regulates Ocular Fissure Closure Through a Retinoic Acid-Independent Pathway.

Williams AL et al.

Investigative Ophthalmology & Visual Science, 2017

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

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

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

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

Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

Acharya M et al.

Molecular Vision, 2006

Glaucoma in Costa Rica. Initial approaches.

Chavarría-Soley G et al.

Revista De Biologia Tropical, 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

Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin.

Soley GC et al.

Journal of Glaucoma, 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

Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.

Michels-Rautenstrauss KG et al.

Journal of Glaucoma, 2001

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."