Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.N453S
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CYP1B1

NM_000104.4:p.N453S

Associated Papers

Decoding the Impact of Genetic Polymorphisms in Xenobiotic Metabolizing Enzymes and Ovarian Cancer: A Comprehensive Review.

Sistla HC et al.

Environmental and Molecular Mutagenesis, 2025

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

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Elksne E et al.

Biomedicines, 2025

The importance of CYP1B1 polymorphism in obesity.

Cilekar M et al.

Medicine, 2025

Association of Inherited Genetic Variants with Multiple Primary Melanoma.

Gibbs DC et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2025

Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.

Yadav M et al.

Japanese Journal of Ophthalmology, 2025

Heme-thiolate monooxygenase cytochrome P450 1B1, an old dog with many new tricks.

Kim JW et al.

Pharmacological Reviews, 2025

Contrastive sequence signatures between the both sides of a recombination spot reveal an adaptation at PPARD locus from standing variation for pleiotropy since out-of-Africa dispersal.

Shou W et al.

Bmc Genomics, 2025

40307732 (PubMed )
Supplement: 12864_2025_11620_MOESM2_ESM.xlsx › TS4

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Human Cytochrome P450 Cancer-Related Metabolic Activities and Gene Polymorphisms: A Review.

Mokhosoev IM et al.

Cells, 2024

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia.

Rayinda T et al.

Jama Dermatology, 2024

Analysis of CYP1B1 Polymorphisms in Lung Cancer Patients Using Novel, Quick and Easy Methods Based on CAPS and ACRS-PCR Techniques.

Dąbrowski A et al.

International Journal of Molecular Sciences, 2024

Sex-biased TGFβ signalling in pulmonary arterial hypertension.

Wits M et al.

Cardiovascular Research, 2023

Wood cookstove use is associated with gastric cancer in Central America and mediated by host genetics.

Rifkin SB et al.

Scientific Reports, 2023

Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.

Saceda-Corralo D et al.

Acta Dermato-venereologica, 2023

Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review.

Khorshid Shamshiri A et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2023

Meta-Analysis of 49 SNPs Covering 25,446 Cases and 41,106 Controls Identifies Polymorphisms in Hormone Regulation and DNA Repair Genes Associated with Increased Endometrial Cancer Risk.

Das AP et al.

Genes, 2023

36981012 (PubMed )
Supplement: genes-14-00741-s001.zip › Table_S1.xlsx › Table_S1

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.

Narta K et al.

Genes, 2023

36833422 (PubMed )
Supplement: genes-14-00495-s001.zip › Narta_et_al_Supplementary_Tables.xlsx › Table_S2_KnownGeneVariation

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

Role of Genetic Polymorphisms in Drug-Metabolizing Enzyme-Mediated Toxicity and Pharmacokinetic Resistance to Anti-Cancer Agents: A Review on the Pharmacogenomics Aspect.

Narendra G et al.

Clinical Pharmacokinetics, 2022

Multi-trait and cross-population genome-wide association studies across autoimmune and allergic diseases identify shared and distinct genetic component.

Shirai Y et al.

Annals of the Rheumatic Diseases, 2022

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

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

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

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

Estrogen Signaling and Portopulmonary Hypertension: The Pulmonary Vascular Complications of Liver Disease Study (PVCLD2).

Al-Naamani N et al.

Hepatology (baltimore, Md.), 2021

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

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_

Genetic Variation and Hot Flashes: A Systematic Review.

Crandall CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.

Ivanoshchuk DE et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2020

At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension.

Cirulis MM et al.

Genes, 2020

Association of cytochrome P450 1B1 gene polymorphisms and environmental biomarkers with hypertension in Slovak midlife women.

Falbová D et al.

Menopause (new York, N.y.), 2020

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Landi MT et al.

Nature Genetics, 2020

32341527 (PubMed )
Supplement: NIHMS1574209-supplement-2.xlsx › Supplementary_Table_3
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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."