Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.T34A
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MTHFR

NM_005957.5:p.T34A

Associated Papers

Evidence for interaction of 5,10-methylenetetrahydrofolate reductase (MTHFR) with methylenetetrahydrofolate dehydrogenase (MTHFD1) and general control nonderepressible 1 (GCN1).

Büchler LR et al.

Biochimie, 2025

Structural basis of S-adenosylmethionine-dependent allosteric transition from active to inactive states in methylenetetrahydrofolate reductase.

Yamada K et al.

Nature Communications, 2024

38886362 (PubMed )
Supplement: 41467_2024_49327_MOESM1_ESM.pdf

The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation Diseases.

Zarembska E et al.

International Journal of Molecular Sciences, 2023

Regulation of folate and methionine metabolism by multisite phosphorylation of human methylenetetrahydrofolate reductase.

Zheng Y et al.

Scientific Reports, 2019

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

Froese DS et al.

Nature Communications, 2018

Polo-like kinase 1 (PLK1)-dependent phosphorylation of methylenetetrahydrofolate reductase (MTHFR) regulates replication via histone methylation.

Li X et al.

Cell Cycle (georgetown, Tex.), 2017

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS et al.

Human Mutation, 2016

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

Regulation of human methylenetetrahydrofolate reductase by phosphorylation.

Yamada K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

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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."