Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.A443G
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CYP1B1

NM_000104.4:p.A443G

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

The importance of CYP1B1 polymorphism in obesity.

Cilekar M et al.

Medicine, 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

Whole-exome screening for primary congenital glaucoma in Lebanon.

Makhoul NJ et al.

Ophthalmic Genetics, 2023

Brain radiotoxicity-related 15CAcBRT gene expression signature predicts survival prognosis of glioblastoma patients.

Reyes-González J et al.

Neuro-oncology, 2023

35802478 (PubMed )
Supplement: noac171_suppl_suplementary_table_s7.xlsx › Table_S7

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

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

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

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Haddad A et al.

European Journal of Ophthalmology, 2021

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

34621706 (PubMed )
Supplement: tcp-29-135-s001.xls › tcp-29-135-s001

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.

Svidnicki PV et al.

Ophthalmic Genetics, 2018

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Yu-Wai-Man C et al.

European Journal of Human Genetics : Ejhg, 2018

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Chouiter L et al.

Journal of Pediatric Genetics, 2017

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx

Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Gonzalez-Covarrubias V et al.

Frontiers in Pharmacology, 2017

29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Reis LM et al.

Molecular Vision, 2016

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

de Melo MB et al.

Plos One, 2015

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

Genetic polymorphisms in Cytochrome P 4501B1 and susceptibility to idiopathic preterm labor in North Indian population.

Mustafa M et al.

Clinical Biochemistry, 2013

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

López-Garrido MP et al.

Ophthalmology, 2013

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Lim SH et al.

American Journal of Ophthalmology, 2013

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E et al.

Molecular Vision, 2013

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.

Khan AO et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012

CYP1B1 and hormone-induced cancer.

Gajjar K et al.

Cancer Letters, 2012

Cytochrome 1A1 and 1B1 gene diversity in the Zanzibar islands.

Cavaco I et al.

Tropical Medicine & International Health : Tm & Ih, 2012

No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.

Dong S et al.

Molecular Vision, 2012

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

Li N et al.

Experimental Eye Research, 2011

Complex genetic mechanisms in glaucoma: an overview.

Rao KN et al.

Indian Journal of Ophthalmology, 2011

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 2011

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Abu-Amero KK et al.

Molecular Vision, 2011

Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Hilal L et al.

Molecular Vision, 2010

CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis.

Della Paolera M et al.

Journal of Glaucoma, 2010

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

Pasutto F et al.

Investigative Ophthalmology & Visual Science, 2010

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

López-Garrido MP et al.

Clinical Genetics, 2010

Frequency of common CYP1B1 polymorphic variations in Delhi population of Northern India.

Kumar V et al.

Environmental Toxicology and Pharmacology, 2009

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

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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."