Varaico: Literature-Extracted Genetic Variants

Gene:MTR
Variant:p.H920D
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MTR

NM_000254.3:p.H920D

Associated Papers

Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis.

Watkins D et al.

Molecular Genetics and Metabolism, 2025

Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools.

Desai M et al.

Systems Biology in Reproductive Medicine, 2019

A Meta-Prediction of Methylenetetrahydrofolate-Reductase Polymorphisms and Air Pollution Increased the Risk of Ischemic Heart Diseases Worldwide.

Chen ZF et al.

International Journal of Environmental Research and Public Health, 2018

29996520 (PubMed )
Supplement: ijerph-15-01453-s001.pdf

Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.

Moreno-Garcia MA et al.

Nutrients, 2013

Meta-analyses on the association of MTR A2756G and MTRR A66G polymorphisms with neural tube defect risks in Caucasian children.

Ouyang S et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2013

Genetic interactions between MTHFR (C677T), methionine synthase (A2756G, C2758G) variants with vitamin B12 and folic acid determine susceptibility to premature coronary artery disease in Indian population.

Kanth VV et al.

Journal of Cardiovascular Disease Research, 2011

Methionine synthase polymorphisms (MTR 2756 A>G and MTR 2758 C>G) frequencies and distribution in the Jordanian population and their correlation with neural tube defects in the population of the northern part of Jordan.

Al Farra HY

Indian Journal of Human Genetics, 2010

Crystal structure and solution characterization of the activation domain of human methionine synthase.

Wolthers KR et al.

The Febs Journal, 2007

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

Watkins D et al.

American Journal of Human Genetics, 2002

Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.

Gulati S et al.

The Journal of Biological Chemistry, 1997

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

Leclerc D et al.

Human Molecular Genetics, 1996

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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."