Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.S175L
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MTRR

NM_002454.3:p.S175L

Associated Papers

Methylenetetrahydrofolate Reductase and Methionine Synthase Reductase Polymorphisms: Genetic Predictors of Congenital Heart Disease Subtypes.

Tripathi S et al.

Cureus, 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

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

Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome.

Ganguly A et al.

Plos One, 2025

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

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

Case report: Rare variants in the MTRR gene, 66GG and 524TT cause hyperhomocysteinemia and folic acid deficiency linked to schizophrenia.

Huang CC

Frontiers in Psychiatry, 2024

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S3__MITNGS_S3_

Genetic Polymorphisms of Gene Methionine Synthase Reductase (MTRR) and Risk of Urinary Bladder Cancer.

Gautam KA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Contribution of 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase Genotypes to Colorectal Cancer in Taiwan.

Wu MH et al.

Anticancer Research, 2022

MTRR rs1532268 polymorphism and gastric cancer risk: evidence from a meta-analysis.

Zhong G et al.

The Journal of International Medical Research, 2022

Riboflavin intake, MTRR genetic polymorphism (rs1532268) and gastric cancer risk in a Korean population: a case-control study.

Lu YT et al.

The British Journal of Nutrition, 2022

Association between high-dose methotrexate-induced toxicity and polymorphisms within methotrexate pathway genes in acute lymphoblastic leukemia.

Xu M et al.

Frontiers in Pharmacology, 2022

Molecular Insight into the Effect of a Single-Nucleotide Polymorphic Variation on the Structure and Dynamics of Methionine Synthase Reductase and Its Association with Neural Tube Defects.

Sadhukhan S et al.

Acs Omega, 2021

Redox-Linked Coordination Chemistry Directs Vitamin B12 Trafficking.

Banerjee R et al.

Accounts of Chemical Research, 2021

First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD).

Sarwar S et al.

Italian Journal of Pediatrics, 2021

Congenital heart defects among Down's syndrome cases: an updated review from basic research to an emerging diagnostics technology and genetic counselling.

Asim A et al.

Journal of Genetics, 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

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

Shafeeque CM et al.

Epigenomics, 2020

Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population.

Chatterjee M et al.

International Journal of Molecular and Cellular Medicine, 2020

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

Methionine Synthase Reductase-A66G and -C524T Single Nucleotide Polymorphisms and Prostate Cancer: A Case-Control Trial

Basir A

Asian Pacific Journal of Cancer Prevention : Apjcp, 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

A66G and C524T polymorphisms of methionine synthase reductase gene are linked to the development of acyanotic congenital heart diseases in Egyptian children.

Hassan FM et al.

Gene, 2017

Association of Three Single Nucleotide Polymorphisms in MTR and MTRR Genes with Lung Cancer in a Turkish Population.

Aksoy-Sagirli P et al.

Genetic Testing and Molecular Biomarkers, 2017

Potential Links between Impaired One-Carbon Metabolism Due to Polymorphisms, Inadequate B-Vitamin Status, and the Development of Alzheimer's Disease.

Troesch B et al.

Nutrients, 2016

Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.

Jackson RA et al.

Cellular and Molecular Life Sciences : Cmls, 2016

MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate.

Wang W et al.

Genetic Testing and Molecular Biomarkers, 2016

Common Polymorphisms That Affect Folate Transport or Metabolism Modify the Effect of the MTHFR 677C > T Polymorphism on Folate Status.

Bueno O et al.

The Journal of Nutrition, 2016

The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.

Koshy T et al.

Pediatric Cardiology, 2015

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WH

Analysis of MTR and MTRR Polymorphisms for Neural Tube Defects Risk Association.

Wang Y et al.

Medicine, 2015

[Association of plasma homocysteine level and polymorphism of methione synthase reductase gene with essential hypertension in ethnic Uyghurs and Hans from Xinjiang].

Chen F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population.

Ni W et al.

Journal of Assisted Reproduction and Genetics, 2015

Association study of folate-related enzymes (MTHFR, MTR, MTRR) genetic variants with non-obstructive male infertility in a Polish population.

Kurzawski M et al.

Genetics and Molecular Biology, 2015

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

Association of polymorphisms in ART3 gene with male infertility in the Chinese population.

Lin F et al.

International Journal of Clinical and Experimental Medicine, 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-A0ER-01A.domain
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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."