Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.I23V
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TCN2

NM_000355.4:p.I23V

Associated Papers

Folate and cobalamin status, indicators, modulators, interactions, and reference ranges from early pregnancy until birth: the Reus-Tarragona birth cohort study.

Santos-Calderón LA et al.

The American Journal of Clinical Nutrition, 2024

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

Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

Younes S et al.

International Journal of Obesity (2005), 2021

Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women.

Kwon BN et al.

Genes & Genomics, 2021

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

Zhan S et al.

Bmc Pediatrics, 2020

Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population.

Hebbar P et al.

Scientific Reports, 2020

31932636 (PubMed )
Supplement: 41598_2019_57072_MOESM1_ESM.docx

Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure.

Park HS et al.

Journal of Assisted Reproduction and Genetics, 2019

Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.

Deng C et al.

Scientific Reports, 2019

30911047 (PubMed )
Supplement: 41598_2019_41641_MOESM1_ESM.pdf

Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions.

Caldeira-Araújo H et al.

Nutrients, 2019

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

John SE et al.

Scientific Reports, 2018

Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.

Hebbar P et al.

Journal of Lipid Research, 2018

Evaluation of transcobalamin II rs1801198 and transcobalamin II receptor rs2336573 gene polymorphisms in recurrent spontaneous abortion.

Hashemi M et al.

Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2018

The TCN2 variant of rs9606756 [Ile23Val] acts as risk loci for obesity-related traits and mediates by interacting with Apo-A1.

Hebbar P et al.

Obesity (silver Spring, Md.), 2017

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

The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.

Coppedè F

Frontiers in Genetics, 2015

B vitamin polymorphisms and behavior: evidence of associations with neurodevelopment, depression, schizophrenia, bipolar disorder and cognitive decline.

Mitchell ES et al.

Neuroscience and Biobehavioral Reviews, 2014

Transcobalamin II (TCN2 67A>G and TCN2 776C>G) and transcobalamin II receptor (TCblR 1104C>T) polymorphisms in Korean patients with idiopathic recurrent spontaneous abortion.

Kim HS et al.

American Journal of Reproductive Immunology (new York, N.y. : 1989), 2014

Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population.

Amorim MR et al.

Molecular Biology Reports, 2013

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

Tajuddin SM et al.

Environmental Health Perspectives, 2013

Genetic polymorphisms modulate the folate metabolism of Brazilian individuals with Down syndrome.

Biselli JM et al.

Molecular Biology Reports, 2012

Association between 11 genetic polymorphisms in folate-metabolising genes and head and neck cancer risk.

Galbiatti AL et al.

European Journal of Cancer (oxford, England : 1990), 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

MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.

da Silva LM et al.

Molecular Biology Reports, 2012

Head and neck cancer: genetic polymorphisms and folate metabolism.

Galbiatti AL et al.

Brazilian Journal of Otorhinolaryngology, 2012

Maternal risk for Down syndrome is modulated by genes involved in folate metabolism.

Zampieri BL et al.

Disease Markers, 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

Transcobalamin polymorphism 67A->G, but not 776C->G, affects serum holotranscobalamin in a cohort of healthy middle-aged men and women.

Riedel BM et al.

The Journal of Nutrition, 2011

A single nucleotide polymorphism in transcobalamin II (I5V) induces structural changes in the protein as revealed by molecular modeling studies.

Silla Y et al.

Biochemistry, 2011

Vitamins B2 and B6 and genetic polymorphisms related to one-carbon metabolism as risk factors for gastric adenocarcinoma in the European prospective investigation into cancer and nutrition.

Eussen SJ et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010

MALDI-TOF MS genotyping of polymorphisms related to 1-carbon metabolism using common and mass-modified terminators.

Meyer K et al.

Clinical Chemistry, 2009

Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism.

Biselli JM et al.

Genetic Counseling (geneva, Switzerland), 2009

Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects.

Brouns R et al.

Prenatal Diagnosis, 2008

Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.

Boyles AL et al.

American Journal of Medical Genetics. Part A, 2008

Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine/S-adenosylhomocysteine values in Brazilian childbearing-age women.

Barbosa PR et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.

Fredriksen A et al.

Human Mutation, 2007

Current perspectives on the genetic causes of neural tube defects.

De Marco P et al.

Neurogenetics, 2006

Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate.

Martinelli M et al.

Human Mutation, 2006

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

High-level multiplex genotyping of polymorphisms involved in folate or homocysteine metabolism by matrix-assisted laser desorption/ionization mass spectrometry.

Meyer K et al.

Clinical Chemistry, 2004

Genetics of hyperhomocysteinaemia in cardiovascular disease.

Lievers KJ et al.

Annals of Clinical Biochemistry, 2003

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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