Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.L474F
Back to variants list

SHMT1

NM_004169.5:p.L474F

Associated Papers

Dietary and Circulating Vitamins, Polymorphisms of Vitamin Metabolism Genes, and the Risk of Gastrointestinal Cancers: A Systematic Review and Meta-Analysis.

Wang XL et al.

Clinical and Translational Gastroenterology, 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Petiti J et al.

International Journal of Molecular Sciences, 2024

Comprehensive systematic review and meta-analysis of the association between common genetic variants and autism spectrum disorder.

Fang Y et al.

Gene, 2023

Genome-wide interaction analysis of folate for colorectal cancer risk.

Bouras E et al.

The American Journal of Clinical Nutrition, 2023

37640106 (PubMed )
Supplement: mmc2.xlsx › S.11

Lifestyle and dietary factors, iron status and one-carbon metabolism polymorphisms in a sample of Italian women and men attending a Transfusion Medicine Unit: a cross-sectional study.

Bortolus R et al.

The British Journal of Nutrition, 2023

Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis.

Almekkawi AK et al.

Journal of Personalized Medicine, 2022

36294748 (PubMed )
Supplement: jpm-12-01609-s001.zip › Supplementary_Table_S1.pdf

Pathogenesis of neural tube defects: The regulation and disruption of cellular processes underlying neural tube closure.

Engelhardt DM et al.

Wires Mechanisms of Disease, 2022

Association Between SHMT1 rs1979277 Polymorphism and Risk of Acute Lymphoblastic Leukemia: A Systematic Review and Meta-analysis.

Yang QQ et al.

Journal of Pediatric Hematology/oncology, 2022

Analysis of association between components of the folate metabolic pathway and autism spectrum disorder in eastern Indian subjects.

Saha S et al.

Molecular Biology Reports, 2022

Maternal polymorphic loci of rs1979277 serine hydroxymethyl transferase and rs1805087 5-methylenetetrahydrofolate are correlated with the development of fetal growth restriction: A case-control study.

Efremova O et al.

International Journal of Reproductive Biomedicine, 2021

Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives.

Karimian M et al.

Expert Review of Molecular Diagnostics, 2021

A case-control study of a combination of single nucleotide polymorphisms and clinical parameters to predict clinically relevant toxicity associated with fluoropyrimidine and platinum-based chemotherapy in gastric cancer.

Cordova-Delgado M et al.

Bmc Cancer, 2021

Association of C677T (rs1081133) and A1298C (rs1801131) Methylenetetrahydrofolate Reductase Variants with Breast Cancer Susceptibility Among Asians: A Systematic Review and Meta-Analysis.

Rezaee M et al.

Biochemical Genetics, 2021

Hyperhomocysteinemia is an emerging comorbidity in ischemic stroke.

Poddar R

Experimental Neurology, 2021

Association Study of MTHFR C677T Polymorphism and Birth Body Mass With Risk of Autism in Chinese Han Population.

Zhang J et al.

Frontiers in Psychiatry, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Gene Polymorphisms Involved in Folate Metabolism and DNA Methylation with the Risk of Head and Neck Cancer.

De Castro TB et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2020

Genetic and clinical prediction models for the efficacy and hepatotoxicity of methotrexate in patients with rheumatoid arthritis: a multicenter cohort study.

Onishi A et al.

The Pharmacogenomics Journal, 2020

Methylation map genes can be critical in determining the methylome of intracranial aneurysm patients.

Shafeeque CM et al.

Epigenomics, 2020

Association between methylenetetrahydrofolate reductase gene rs1801131 A/C polymorphism and urinary tumors' susceptibility.

Xu S et al.

Hereditas, 2020

Genomic analysis of a riboflavin-overproducing Ashbya gossypii mutant isolated by disparity mutagenesis.

Kato T et al.

Bmc Genomics, 2020

Cumulative Evidence for Associations between Genetic Variants and Risk of Esophageal Cancer.

Li G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

31969372 (PubMed )
Supplement: 10559965epi191281-sup-230715_3_supp_6000458_q3kstt.docx

A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.

Salamanca C et al.

Oral Diseases, 2020

One-carbon metabolism gene polymorphisms are associated with cognitive trajectory among African-American adults.

Beydoun MA et al.

Neurobiology of Aging, 2019

Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells.

Lazar IM et al.

Scientific Reports, 2019

31316139 (PubMed )
Supplement: 41598_2019_46897_MOESM3_ESM.xlsx › Table_S1

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-s007.xlsx › Table_S4

Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis.

Nazari Mehrabani SZ et al.

Biochemical Genetics, 2019

Linking genetics to epigenetics: The role of folate and folate-related pathways in neurodevelopmental disorders.

Lintas C

Clinical Genetics, 2019

Folate/homocysteine metabolism and lung cancer risk among smokers.

Stanisławska-Sachadyn A et al.

Plos One, 2019

Identification of three novel loci of ALDH2 Gene for Serum Folate levels in a Male Chinese Population by Genome-Wide Association Study.

Deng C et al.

Gene, 2018

Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.

Madi A et al.

European Journal of Cancer (oxford, England : 1990), 2018

Folate and Its Impact on Cancer Risk.

Pieroth R et al.

Current Nutrition Reports, 2018

Nuclear Folate Metabolism.

Field MS et al.

Annual Review of Nutrition, 2018

Association of Cerebrospinal Fluid Biomarkers of Central Nervous System Injury With Neurocognitive and Brain Imaging Outcomes in Children Receiving Chemotherapy for Acute Lymphoblastic Leukemia.

Cheung YT et al.

Jama Oncology, 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

Frequency of folate-related polymorphisms varies by skin pigmentation.

Jones P et al.

American Journal of Human Biology : the Official Journal of the Human Biology Council, 2018

Single Nucleotide Polymorphisms in Key One-Carbon Metabolism Genes and Their Association with Blood Folate and Homocysteine Levels in a Chinese Population in Yunnan.

Ni J et al.

Genetic Testing and Molecular Biomarkers, 2018

The role of the folate pathway in pancreatic cancer risk.

Chittiboyina S et al.

Plos One, 2018

Neuro-fuzzy model of homocysteine metabolism.

Naushad SM et al.

Journal of Genetics, 2017

Integrative Pathway Analysis of Genes and Metabolites Reveals Metabolism Abnormal Subpathway Regions and Modules in Esophageal Squamous Cell Carcinoma.

Li C et al.

Molecules (basel, Switzerland), 2017

Astronaut ophthalmic syndrome.

Zwart SR et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2017

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.

K Rebekah P et al.

Birth Defects Research, 2017

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.

K Rebekah P et al.

Birth Defects Research, 2017

Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

Qiu Q et al.

Scientific Reports, 2017

Cardiovascular pharmacogenetics: a promise for genomically-guided therapy and personalized medicine.

Zaiou M et al.

Clinical Genetics, 2017

1–50 of 212 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."