Varaico: Literature-Extracted Genetic Variants

Gene:AGXT2
Variant:p.V140I
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AGXT2

NM_031900.4:p.V140I

Associated Papers

Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.

Krishnan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646814 (PubMed )
Supplement: media-2.xlsx › Table_S3

IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.

Malvestiti F et al.

International Journal of Molecular Sciences, 2026

41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.

Wan H et al.

Cell Reports. Medicine, 2025

40876452 (PubMed )
Supplement: mmc2.xlsx › TableS3._Nonsilent_mutations

Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.

Valo E et al.

Nature Communications, 2025

Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.

Granot-Hershkovitz E et al.

Translational Psychiatry, 2023

Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in Japan.

Kumon H et al.

Canadian Journal of Diabetes, 2022

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Cats with Genetic Variants of AGXT2 Respond Differently to a Dietary Intervention Known to Reduce the Risk of Calcium Oxalate Stone Formation.

Hall JA et al.

Genes, 2022

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.

Schlosser P et al.

Nature Genetics, 2020

AGXT2 and DDAH-1 genetic variants are highly correlated with serum ADMA and SDMA levels and with incidence of coronary artery disease in Egyptians.

Amir M et al.

Molecular Biology Reports, 2018

High grade serous ovarian carcinomas originate in the fallopian tube.

Labidi-Galy SI et al.

Nature Communications, 2017

29061967 (PubMed )
Supplement: 41467_2017_962_MOESM5_ESM.xlsx › 4

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19

Considerable impacts of AGXT2 V140I polymorphism on chronic heart failure in the Chinese population.

Hu XL et al.

Atherosclerosis, 2016

Associations of functional alanine-glyoxylate aminotransferase 2 gene variants with atrial fibrillation and ischemic stroke.

Seppälä I et al.

Scientific Reports, 2016

Biochemical insights from population studies with genetics and metabolomics.

Suhre K et al.

Archives of Biochemistry and Biophysics, 2016

Genetics of human metabolism: an update.

Kastenmüller G et al.

Human Molecular Genetics, 2015

Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginine.

Lüneburg N et al.

Circulation. Cardiovascular Genetics, 2014

AGXT2: a promiscuous aminotransferase.

Rodionov RN et al.

Trends in Pharmacological Sciences, 2014

Missense variants of the alanine:glyoxylate aminotransferase 2 gene are not associated with Japanese schizophrenia patients.

Yoshino Y et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2014

Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.

Seppälä I et al.

European Heart Journal, 2014

Alanine-glyoxylate aminotransferase 2 (AGXT2) polymorphisms have considerable impact on methylarginine and β-aminoisobutyrate metabolism in healthy volunteers.

Kittel A et al.

Plos One, 2014

Association of the AGXT2 V140I polymorphism with risk for coronary heart disease in a Chinese population.

Zhou JP et al.

Journal of Atherosclerosis and Thrombosis, 2014

Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium.

Kleber ME et al.

Circulation. Cardiovascular Genetics, 2013

A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.

Nicholson G et al.

Plos Genetics, 2011

A genome-wide association study of metabolic traits in human urine.

Suhre K et al.

Nature Genetics, 2011

Missense variants of the alanine: glyoxylate aminotransferase 2 gene correlated with carotid atherosclerosis in the Japanese population.

Yoshino Y et al.

Journal of Biological Regulators and Homeostatic Agents, 0

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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."