Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.G1057D
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IRS2

NM_003749.3:p.G1057D

Associated Papers

Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.

Gaebler C et al.

Nature, 2026

41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati

Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience.

Pinamonti M et al.

Journal of Clinical Medicine, 2025

Is Predisposition to T2D Impacted by Polymorphisms in Genes Involved in Insulin Signaling and Cellular Bioenergetics?

Pati B et al.

Acta Physiologica (oxford, England), 2025

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

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

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Moroccan genome project: genomic insight into a North African population.

El Fahime E et al.

Communications Biology, 2025

IRS gene polymorphisms in Turkish patients with late-onset Alzheimer's disease.

Ozkan H et al.

Molecular Biology Reports, 2025

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Ethnicity-related differences in mitochondrial regulation by insulin stimulation in diabetes.

Neikirk K et al.

Journal of Cellular Physiology, 2024

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_MOESM14_ESM.xlsx › S14

Insulin receptor substrate 2 gene Gly1057Asp polymorphism is a risk factor for nonalcoholic fatty liver disease.

Nouri S et al.

Laboratory Medicine, 2024

Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.

Fajardo CM et al.

Nutrition Research (new York, N.y.), 2023

Noncanonical CDK4 signaling rescues diabetes in a mouse model by promoting β cell differentiation.

Stamateris RE et al.

The Journal of Clinical Investigation, 2023

Next-generation sequencing clarified why first-line treatment with osimertinib was ineffective in an autopsied case of EGFR-mutated lung squamous cell carcinoma.

Nishimura T et al.

Thoracic Cancer, 2023

Structural Consequences of IRS-2 nsSNPs and Implication for Insulin Receptor Substrate-2 Protein Stability.

Zia A et al.

Biochemical Genetics, 2023

Decoding type 2 diabetes mellitus genetic risk variants in Pakistani Pashtun ethnic population using the nascent whole exome sequencing and MassARRAY genotyping: A case-control association study.

Jan A et al.

Plos One, 2023

Association of IRS-1 and IRS-2 polymorphisms with predisposition to type-2 diabetes (T2D): a meta-analysis and trial sequential analysis.

Luo Q et al.

Nucleosides, Nucleotides & Nucleic Acids, 2023

Evaluation of Type 2 Diabetes Risk Variants (Alleles) in the Pashtun Ethnic Population of Pakistan.

Jan A et al.

Journal of the Asean Federation of Endocrine Societies, 2023

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

35768433 (PubMed )
Supplement: 41523_2022_443_MOESM6_ESM.xlsx › Non_-_truncating_variants

Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach.

Nautiyal H et al.

Biomedicines, 2022

In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC.

Zahra A et al.

International Journal of Molecular Sciences, 2022

Single nucleotide polymorphisms in binding site of miRNA-135a and targeted gene IRS2 are correlated with multiple clinical features of PCOS: A study in Chinese women.

Gu H et al.

Technology and Health Care : Official Journal of the European Society for Engineering and Medicine, 2022

Association between Genetic Polymorphisms and Risk of Kidney Posttransplant Diabetes Mellitus: A Systematic Review and Meta-Analysis.

Xu S et al.

International Journal of Clinical Practice, 2022

35685576 (PubMed )
Supplement: 7140024.f1.zip › 7140024.f1 › Supplementary_Table_1__1_.pdf

Investigation of allele frequencies of polymorphic variants in genes that are related to polycystic ovary syndrome.

Adam AR et al.

Revista Da Associacao Medica Brasileira (1992), 2022

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad.

Irgam K et al.

Bmc Medical Genomics, 2021

Analysis of genetic selection at insulin receptor substrate-2 gene loci.

Yoshiuchi I

Journal of Diabetes and Metabolic Disorders, 2021

Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women.

Jamshidi M et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2021

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

Qi T et al.

International Journal of Medical Sciences, 2021

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Jan A et al.

Journal of Diabetes Research, 2021

34258292 (PubMed )
Supplement: 6669731.f1.zip › 6669731.f1 › 6669731.f1.pdf

Association of IRS1 (Gly972Arg) and IRS2 (Gly1057Asp) genes polymorphisms with OSA and NAFLD in Asian Indians.

Bhatt SP et al.

Plos One, 2021

Polymorphism analysis of the Gly972Arg IRS-1 and Gly1057Asp IRS-2 genes in obese pregnant women.

Górska A et al.

Reproductive Biology, 2020

Association of IRS1 Gly972Arg and IRS2 Gly1057Asp polymorphisms with gastric cancer in Turkish subjects.

Gorgisen G et al.

Oncology Letters, 2020

Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.

Minarik L et al.

Folia Biologica, 2020

Gene-lifestyle interaction on risk of type 2 diabetes: A systematic review.

Dietrich S et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2019

31478326 (PubMed )
Supplement: OBR-20--s001.docx

Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Liu F et al.

Therapeutic Advances in Medical Oncology, 2019

31205508 (PubMed )
Supplement: Supplemental_Table_3.xlsx › Sheet1

The combined role of allelic variants of IRS-1 and IRS-2 genes in susceptibility to type2 diabetes in the Punjabi Pakistani subjects.

Ijaz A et al.

Diabetology & Metabolic Syndrome, 2019

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Mahajan A et al.

Nature Genetics, 2018

Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy.

Pace NP et al.

Bmc Endocrine Disorders, 2018

Potential genetic polymorphisms predicting polycystic ovary syndrome.

Chen Y et al.

Endocrine Connections, 2018

Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects.

de Jesús Ascencio-Montiel I et al.

Scientific Reports, 2017

29213072 (PubMed )
Supplement: 41598_2017_17361_MOESM1_ESM.doc

HLA class I loss in metachronous metastases prevents continuous T cell recognition of mutated neoantigens in a human melanoma model.

Schrörs B et al.

Oncotarget, 2017

28423700 (PubMed )
Supplement: oncotarget-08-28312-s002.pdf
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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."