Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G971R
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IRS1

NM_005544.3:p.G971R

Associated Papers

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

Genetic variants linked to type 2 diabetes in CDKN1B and TCF7L2 influence survival outcomes in metastatic colorectal cancer.

Ruggiero R et al.

International Journal of Cancer, 2025

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

Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.

Wang JJ et al.

Frontiers in Physiology, 2025

40166716 (PubMed )
Supplement: Table1.xlsx › Table_S1__

PNPLA3-Ile148Met and TM6SF2-Glu167Lys increase susceptibility to metabolic dysfunction-associated steatotic liver disease in children.

Yao H et al.

Frontiers in Endocrinology, 2025

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM17_ESM.xlsx › S17

Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.

Boukhalfa W et al.

Frontiers in Aging Neuroscience, 2023

37342358 (PubMed )
Supplement: Table_2.XLSX › Table_2_SNPnexus_annotation

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

Napolitano F et al.

International Journal of Molecular Sciences, 2021

Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis.

Yumiceba V et al.

Frontiers in Endocrinology, 2020

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Miller EM et al.

Oncotarget, 2017

29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes.

Costa V et al.

International Journal of Molecular Sciences, 2016

Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Edelman D et al.

Molecular Genetics & Genomic Medicine, 2015

Pharmacogenomics of Drug Response in Type 2 Diabetes: Toward the Definition of Tailored Therapies?

Pollastro C et al.

Ppar Research, 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-A8-A082-01A.domain

The role of pharmacogenetics in drug disposition and response of oral glucose-lowering drugs.

van Leeuwen N et al.

Clinical Pharmacokinetics, 2013

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer.

Esposito DL et al.

Oncology Reports, 2013

Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.

Mannino GC et al.

Molecular Diagnosis & Therapy, 2012

The interactive effect of SIRT1 promoter region polymorphism on type 2 diabetes susceptibility in the North Indian population.

Rai E et al.

Plos One, 2012

Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Unknown Author

Plos Genetics, 2011

21966275 (PubMed )
Supplement: pgen.1002260.s008.pdf

Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins.

Abulí A et al.

Bmc Cancer, 2011

[A study of the single nucleotide polymorphism in seven genes (GHR, IGFBP3, IGFR1, IRS1, FMN1, ANXA2, TaGLN) in ethnic Russians and in patients with prostate cancer].

Lisitskaia KV et al.

Molekuliarnaia Genetika, Mikrobiologiia I Virusologiia, 2010

The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

Julier C et al.

Genes and Immunity, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

Küry S et al.

Bmc Cancer, 2008

AHSG tag single nucleotide polymorphisms associate with type 2 diabetes and dyslipidemia: studies of metabolic traits in 7,683 white Danish subjects.

Andersen G et al.

Diabetes, 2008

Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset.

Zeggini E et al.

Diabetes, 2004

The role of insulin receptor substrate-1 gene (IRS1) in type 2 diabetes in Pima Indians.

Kovacs P et al.

Diabetes, 2003

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.

Esposito DL et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Heterozygous knockout of the IRS-1 gene in mice enhances obesity-linked insulin resistance: a possible model for the development of type 2 diabetes.

Shirakami A et al.

The Journal of Endocrinology, 2002

The T allele of the C(677)T 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism may protect endothelial function in young, normal subjects.

Butler R et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2002

Bioinformatic and experimental tools for identification of single-nucleotide polymorphisms in genes with a potential role for the development of the insulin resistance syndrome.

Bennet AM et al.

Journal of Internal Medicine, 2001

Impact of natural IRS-1 mutations on insulin signals: mutations of IRS-1 in the PTB domain and near SH2 protein binding sites result in impaired function at different steps of IRS-1 signaling.

Yoshimura R et al.

Diabetes, 1997

No association between the Gly971Arg variant of the insulin receptor substrate 1 gene and NIDDM in the Taiwanese population.

Chuang LM et al.

Diabetes Care, 1996

Insulin receptor substrate-1 variants in non-insulin-dependent diabetes.

Laakso M et al.

The Journal of Clinical Investigation, 1994

Molecular scanning for mutations in the insulin receptor substrate-1 (IRS-1) gene in Mexican Americans with Type 2 diabetes mellitus.

Celi FS et al.

Diabetes/metabolism Research and Reviews, 0

ASSOCIATION OF IRS1 GLY971ARG GENE POLYMORPHISM WITH INSULIN RESISTANCE IN IRANIAN NEWLY DIAGNOSED DIABETIC ADULTS.

Shakeri H et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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