Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.T653M
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MTHFR

NM_005957.5:p.T653M

Associated Papers

Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis.

Molaee Z et al.

Genes, 2025

Genetic Variants in the Mitochondrial Thymidylate Biosynthesis Pathway Increase Colorectal Cancer Risk.

Arrait EM et al.

Current Oncology (toronto, Ont.), 2023

37754498 (PubMed )
Supplement: curroncol-30-00583-s001.zip › curroncol-2432755-supplementary.pdf

Shifting landscapes of human MTHFR missense-variant effects.

Weile J et al.

American Journal of Human Genetics, 2021

34214447 (PubMed )
Supplement: mmc4.xlsx › 1000_genomes

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Burda P et al.

Journal of Inherited Metabolic Disease, 2017

Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.

Igartua C et al.

Nature Communications, 2015

25591454 (PubMed )
Supplement: NIHMS645116-supplement-1.pdf

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Association between MTHFR C677T, MTHFR A1298C and MS A2756G polymorphisms and risk of cervical intraepithelial neoplasia II/III and cervical cancer: a meta-analysis.

Zhu J et al.

Molecular Medicine Reports, 2013

Rare allelic variants determine folate status in an unsupplemented European population.

Pavlíková M et al.

The Journal of Nutrition, 2012

Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Aneji CN et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

The prevalence of folate-remedial MTHFR enzyme variants in humans.

Marini NJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

Methylenetetrahydrofolate reductase haplotype tag single-nucleotide polymorphisms and risk of breast cancer.

Martin YN et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

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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."