Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.E470A
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MTHFR

NM_005957.5:p.E470A

Associated Papers

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

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Genetic variants and clinical determinants affecting the response to 5-Fluorouracil-based treatment in Chilean patients with advanced colorectal cancer.

Cerpa LC et al.

Frontiers in Oncology, 2025

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

Genetic Polymorphisms and Tumoral Mutational Profiles over Survival in Advanced Colorectal Cancer Patients: An Exploratory Study.

Cayún JP et al.

Current Oncology (toronto, Ont.), 2024

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

Genetic variants in African-American and Hispanic patients with breast cancer.

Dutta P et al.

Oncology Letters, 2023

Methylenetetrahydrofolate reductase polymorphic variants C677T and A1298C in rectal cancer in Slavic population: significance for cancer risk and response to chemoradiotherapy.

Stanojevic A et al.

Frontiers in Genetics, 2023

Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes.

Ohnami S et al.

Scientific Reports, 2022

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Association of MTHFR and ABCB1 polymorphisms with MTX-induced mucositis in Chinese paediatric patients with acute lymphoblastic leukaemia, lymphoma or osteosarcoma-A retrospective cohort study.

Gong Y et al.

Journal of Clinical Pharmacy and Therapeutics, 2021

Pharmacogenetics of the Central Nervous System-Toxicity and Relapse Affecting the CNS in Pediatric Acute Lymphoblastic Leukemia.

Sági JC et al.

Cancers, 2021

34066083 (PubMed )
Supplement: cancers-13-02333-s001.zip › Supplementary_Tables.xlsx › Table_S1a

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

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

Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort.

Avsar T et al.

Turkish Neurosurgery, 2021

Methylation map genes can be critical in determining the methylome of intracranial aneurysm patients.

Shafeeque CM et al.

Epigenomics, 2020

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M et al.

The International Journal of Neuroscience, 2019

30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo

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

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

Possible roles of genetic variations in chemotherapy related cardiotoxicity in pediatric acute lymphoblastic leukemia and osteosarcoma.

Sági JC et al.

Bmc Cancer, 2018

29970035 (PubMed )
Supplement: 12885_2018_4629_MOESM1_ESM.xlsx › Munka1

Clinical Pharmacogenetic Models of Treatment Response to Methotrexate Monotherapy in Slovenian and Serbian Rheumatoid Arthritis Patients: Differences in Patient's Management May Preclude Generalization of the Models.

Jenko B et al.

Frontiers in Pharmacology, 2018

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Ley TJ et al.

Nature, 2008

18987736 (PubMed )
Supplement: NIHMS71093-supplement-7.xls › untitled1_4_
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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."