Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.V320L
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CYP1B1

NM_000104.4:p.V320L

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

Intrinsic disorder in CYP1B1 and its implications in primary congenital glaucoma pathogenesis.

Sharma M et al.

Journal of Proteins and Proteomics, 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

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.

Tehreem R et al.

Plos One, 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

Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma.

Qiao Y et al.

Frontiers in Genetics, 2021

34956319 (PubMed )
Supplement: DataSheet1.docx

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.

Russell MW et al.

Data in Brief, 2019

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.

Ou Z et al.

Bioscience Reports, 2018

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

Chouiter L et al.

Journal of Pediatric Genetics, 2017

CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients.

Do T et al.

Journal of Glaucoma, 2016

Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.

Gong B et al.

The British Journal of Ophthalmology, 2015

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

CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.

Chen X et al.

The British Journal of Ophthalmology, 2014

A clinical and molecular genetics study of primary congenital glaucoma in South Korea.

Suh W et al.

The British Journal of Ophthalmology, 2012

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 CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ et al.

Molecular Vision, 2011

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Chavarria-Soley G et al.

Journal of Glaucoma, 2006

[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

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

Ohtake Y et al.

The British Journal of Ophthalmology, 2003

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

Mashima Y et al.

Investigative Ophthalmology & Visual Science, 2001

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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."