Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.E429A
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MTHFR

NM_005957.5:p.E429A

Associated Papers

The rs3024839 and rs2227483 polymorphisms with immune pathomechanism offers a starting point for diagnosis and susceptibility testing of myocardial infarction.

Khosravi Nezhad Z et al.

Scientific Reports, 2026

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia.

Cluzeau T et al.

Clinical Case Reports, 2026

Distribution of Thrombophilia-Related Genetic Polymorphisms in Women with Reproductive Disorders.

Kurmanova A et al.

Biomedicines, 2026

Clinical Implementation of Pharmacogenomics and Drug-Drug Interaction Screening in a German Academic Teaching Hospital and Outpatient Follow-Up.

Tremmel R et al.

Clinical Pharmacology and Therapeutics, 2026

41074844 (PubMed )
Supplement: CPT-119-241-s005.pdf

Pharmacogenetic insights into MTHFR and SLC19A1 variants in low-dose methotrexate therapy for rheumatologic diseases.

Martínez Téllez G et al.

Drug Metabolism and Personalized Therapy, 2025

Genetic Polymorphism of MDM2 Gene Associates with Breast Cancer Incidence in the Lower Northern Thailand.

Srikummool M et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

Protein S Gene Mutation: Potential Mechanism of Cerebral Venous Sinus Thrombosis in Patients With Dural Arteriovenous Fistula.

Song Z et al.

Neurosurgery, 2025

<em>MTHFR</em> Gene Polymorphisms (rs1801133 and rs1801131) and Their Association with Type 2 Diabetes Mellitus and Diabetic Foot Ulcers: A Study from Karachi, Pakistan.

Abro SUA et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › iPSC-MCs_tumor_3

Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase.

Sunoki K et al.

Scientific Reports, 2025

To Study the Correlation of Methylenetetrahydrofolate Reductase C677T and MTR (A2756G) Gene Polymorphism in Endometriosis in Women of Reproductive Age Group.

Singh S et al.

Annals of African Medicine, 2025

Pharmacogenetic Profiling of Genes Associated with Outcomes of Chemotherapy in Omani Healthy Controls.

Al-Mahrouqi N et al.

Genes, 2025

Safety and Efficacy of High-Dose Folinic Acid in Children with Autism: The Impact of Folate Metabolism Gene Polymorphisms.

Zhang C et al.

Nutrients, 2025

Comprehensive review of thrombophilia: pathophysiology, prevalence, risk factors, and molecular diagnosis.

Altwayan R et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2025

MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review.

Araszkiewicz AF et al.

Genes, 2025

The Role of Folic Acid in DNA Methylation and Breast Cancer.

de la Torre Guzmán SR et al.

International Journal for Vitamin and Nutrition Research. Internationale Zeitschrift Fur Vitamin- Und Ernahrungsforschung. Journal International De Vitaminologie Et De Nutrition, 2025

Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).

Nouh WE et al.

Gene, 2025

Association of MTHFR C677T and A1298C variants with preeclampsia risk and angiogenic imbalance in Tunisian women.

Zitouni H et al.

Pregnancy Hypertension, 2025

The impact of MTHFR and VDR polymorphisms on endometriosis susceptibility: Insights from a systematic review and meta-analysis.

Zhang R et al.

Journal of Reproductive Immunology, 2025

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Investigation of the effects of MTHFR gene variations and homocysteine levels in hypertensive patients.

Kuras S et al.

Northern Clinics of Istanbul, 2025

Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol.

Salazar J et al.

Pharmaceutics, 2024

Can Global DNA Methylation Be Influenced by Polymorphisms in Genes Involved in Epigenetic Mechanisms? A Review.

de Oliveira NFP et al.

Genes, 2024

Unraveling the impact of ORF3a Q57H mutation on SARS-CoV-2: insights from molecular dynamics.

Islam MJ et al.

Journal of Biomolecular Structure & Dynamics, 2024

Genetic association and computational analysis of MTHFR gene polymorphisms rs1801131 and rs1801133 with breast cancer in the Bangladeshi population.

Alam NF et al.

Scientific Reports, 2024

Impact of MTHFR Gene Polymorphisms C677T and A1298C on Congenital Atrial Septal Defect Risk in an Iranian Cohort.

Noori NM et al.

Reports of Biochemistry & Molecular Biology, 2024

Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects.

Singh NK et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Szuman M et al.

International Journal of Molecular Sciences, 2024

Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome.

Singh J et al.

Brain Sciences, 2024

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.

Redonnet-Vernhet I et al.

Molecular Genetics and Metabolism Reports, 2024

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform.

Huang K et al.

Journal of Visualized Experiments : Jove, 2024

The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia).

Bordaeva OY et al.

Annals of Human Genetics, 2024

Association of epistatic effects of MTHFR, ACE, APOB, and APOE gene polymorphisms with the risk of myocardial infarction and unstable angina in Egyptian patients.

Taha M et al.

Gene, 2024

Coronary Artery Disease Is Related to Methylation Disorders Caused by the c.1286A>C MTHFR Polymorphism and to Low Serum 5-MTHF and Folic Acid Concentrations-Preliminary Results.

Pietruszyńska-Reszetarska A et al.

Reports (mdpi), 2024

Associations between MTHFR gene polymorphisms (C677T and A1298C) and genetic susceptibility to prostate cancer: a systematic review and meta-analysis.

You J et al.

Frontiers in Genetics, 2024

SERPINE1 and MTHFR genetic variants in patients with embolic stroke of undetermined source: links with fibrin clot properties.

Klajmon A et al.

Neurologia I Neurochirurgia Polska, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10489.xls › SNVIndel

Genetic polymorphisms and platinum-induced hematological toxicity: a systematic review.

Zheng Y et al.

Frontiers in Pharmacology, 2024

Association of MTHFR gene polymorphisms with non-Hodgkin lymphoma risk: Evidence from 31 articles.

Wang G et al.

Journal of Cancer, 2024

MTHFR Gene C677T Polymorphism (rs1801133) and Susceptibility to Colorectal Polyps in an Azerbaijani Population.

Aslanov H et al.

Journal of Clinical Medicine, 2023

Thymidylate Synthase (TYMS) and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms Associated With Severe Capecitabine Toxicity: The First Case From Saudi Arabia.

Bukhari N et al.

Cureus, 2023

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Successful Re-transplantation of Kidney in a Child with Heterozygous Prothrombin G20210A Mutation.

Acharya R et al.

Progress in Transplantation (aliso Viejo, Calif.), 2023

Plasma thiol levels and methylenetetrahydrofolate reductase gene c.665C > T and c.1286A > C variants affect fibrin clot properties in Polish venous thromboembolic patients.

Klajmon A et al.

Molecular Genetics and Metabolism, 2023

A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family.

Biswas S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Barretta F et al.

Genes, 2023

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders-A Review.

Romanitan MO et al.

Diagnostics (basel, Switzerland), 2023

Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19.

Fevraleva I et al.

Genes, 2023

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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."