Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.S348F
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TCN2

NM_000355.4:p.S348F

Associated Papers

Vitamin B12 binding to mutated human transcobalamin, in-silico study of TCN2 alanine scanning and ClinVar missense mutations/SNPs.

Abuyaman O et al.

Journal of Biomolecular Structure & Dynamics, 2023

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC36

Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.

Sobczyńska-Malefora A et al.

European Journal of Clinical Investigation, 2016

Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.

Kurnat-Thoma EL et al.

Biological Research for Nursing, 2015

Genetic and non-genetic predictors of LINE-1 methylation in leukocyte DNA.

Tajuddin SM et al.

Environmental Health Perspectives, 2013

Associations between maternal genotypes and metabolites implicated in congenital heart defects.

Chowdhury S et al.

Molecular Genetics and Metabolism, 2012

Folate and vitamin B12-related genes and risk for omphalocele.

Mills JL et al.

Human Genetics, 2012

Polymorphisms in transcobalamin II gene is associated with coronary artery disease in Indian population.

Garg G et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2012

Folate and vitamin B12 in idiopathic male infertility.

Murphy LE et al.

Asian Journal of Andrology, 2011

Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk.

Hsu FC et al.

Neurology, 2011

Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.

Swanson DA et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2005

Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients.

Lievers KJ et al.

Clinical Chemistry, 2002

Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects.

Afman LA et al.

European Journal of Human Genetics : Ejhg, 2002

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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."