Varaico: Literature-Extracted Genetic Variants

Gene:MTHFD1
Variant:p.K134R
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MTHFD1

NM_005956.4:p.K134R

Associated Papers

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy.

Liu YX et al.

Frontiers in Genetics, 2022

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Quality control of single amino acid variations detected by tandem mass spectrometry.

Yi X et al.

Journal of Proteomics, 2018

Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.

Fang Y et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018

Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.

Niedzwiecki MM et al.

Environment International, 2018

Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway.

Cao L et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018

Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene.

Desai M et al.

Computational Biology and Chemistry, 2017

Exome analysis in an Estonian multiplex family with neural tube defects-a case report.

Pappa L et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2017

Folate-mediated one-carbon metabolism genes and interactions with nutritional factors on colorectal cancer risk: Women's Health Initiative Observational Study.

Cheng TY et al.

Cancer, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

Association between MTHFD1 polymorphisms and neural tube defect susceptibility.

Meng J et al.

Journal of the Neurological Sciences, 2015

Human Multidrug Resistance 1 gene polymorphisms and Idiopathic Pulmonary Fibrosis.

Martinelli M et al.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations.

Corrigan A et al.

The Pharmacogenomics Journal, 2014

The role of 401a>G polymorphism of methylenetetrahydrofolate dehydrogenase gene (MTHFD1) in fetal hypotrophy.

Lorenc A et al.

Ginekologia Polska, 2014

[Correlation of NOS1AP gene polymorphisms with sudden unexpected death in Chinese Han population].

Huang JL et al.

Fa Yi Xue Za Zhi, 2014

Associations of common variants in methionine metabolism pathway genes with plasma homocysteine and the risk of type 2 diabetes in Han Chinese.

Huang T et al.

Journal of Nutrigenetics and Nutrigenomics, 2014

Folate-genetics and colorectal neoplasia: what we know and need to know next.

Figueiredo JC et al.

Molecular Nutrition & Food Research, 2013

Idiopathic pulmonary fibrosis and polymorphisms of the folate pathway genes.

Martinelli M et al.

Clinical Biochemistry, 2013

Germline genetic polymorphisms may influence chemotherapy response and disease outcome in osteosarcoma: a pilot study.

Windsor RE et al.

Cancer, 2012

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing.

Nichols AC et al.

Isrn Oncology, 2012

Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.

Metayer C et al.

Cancer Causes & Control : Ccc, 2011

[Polymorphisms of CYP3A5 gene in acute leukemia patients and their role in chemotherapy and prognosis].

Shen LJ et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2008

Prognostic significance of folate metabolism polymorphisms for lung cancer.

Matakidou A et al.

British Journal of Cancer, 2007

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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."