Varaico: Literature-Extracted Genetic Variants

Gene:CYP1A1
Variant:p.R464S
Back to variants list

CYP1A1

NM_001319217.2:p.R464S

Associated Papers

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

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 landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

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

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Polymorphisms in PAH metabolising enzyme CYP1A1 in colorectal cancer and their clinicopathological correlations.

Cheng T et al.

Pathology, Research and Practice, 2022

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_6

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

Flück CE et al.

Frontiers in Genetics, 2019

Profiling deleterious non-synonymous SNPs of smoker's gene CYP1A1.

Ramesh AS et al.

Cell Biochemistry and Biophysics, 2013

A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers.

Zienolddiny S et al.

Carcinogenesis, 2008

Association of the G134A and G184C Polymorphisms in the CYP1A1 Gene with Lung Cancer Incidence.

Ryu DY et al.

Toxicological Research, 2008

[Cancer pharmacogenetics: study of genetically determined variations on cancer susceptibility due to xenobiotic exposure].

Quiñones L et al.

Revista Medica De Chile, 2006

A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.

Landi S et al.

Pharmacogenetics and Genomics, 2005

First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: identification of a loss-of-function variant.

Cauffiez C et al.

Human Mutation, 2004

Genetic polymorphism of human cytochrome p450 involved in drug metabolism.

Nagata K et al.

Drug Metabolism and Pharmacokinetics, 2002

Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population.

Chevalier D et al.

Human Mutation, 2001

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."