Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.F445C
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CYP1B1

NM_000104.4:p.F445C

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

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.

Franco E et al.

Cornea, 2024

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

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

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

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

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

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2007

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."