Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.T244I
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IL7R

NM_002185.5:p.T244I

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

rs6897932 (C>T) and rs987106 (A>T) variants in the IL7RA gene are correlated with the susceptibility and the clinical features of systemic lupus erythematosus.

Sarpeleh F et al.

Lupus, 2026

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

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Activity of Brigatinib in Patients With Crizotinib-Resistant ALK-positive Non-Small-Cell Lung Cancer According to ALK Fusion and Mutation Status.

Bazhenova L et al.

Clinical Lung Cancer, 2025

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Nature Communications, 2025

40021644 (PubMed )
Supplement: 41467_2025_56719_MOESM3_ESM.xlsx › Supplementary_Data_20

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s002.xlsx › XG111.D0_XEM_variants

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

The Polygenic Nature of Multiple Sclerosis: Genetic Variants, Immunological Modulation, and Environmental Connections.

Khan Z et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2025

IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.

Arango-Franco CA et al.

The Journal of Clinical Investigation, 2024

39352394 (PubMed )
Supplement: jci-134-180251-s159.xlsx › Supplemental_Fig_1E

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_MOESM15_ESM.xlsx › S15

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.

Mackeh R et al.

Journal of Clinical Immunology, 2024

Prognostic impact of IL7R mutations on acute myeloid leukemia.

Tao Q et al.

Therapeutic Advances in Hematology, 2024

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37873414 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_16

RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).

Rehn J et al.

Plos Genetics, 2022

36251721 (PubMed )
Supplement: pgen.1010300.s006.xlsx › sequence_variants

Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Gnatenko DV et al.

Blood Advances, 2022

35381074 (PubMed )
Supplement: advancesADV2021005648-suppl1.pdf

Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Meyers S et al.

Hemasphere, 2022

35291210 (PubMed )
Supplement: hs9-6-e700-s004.xlsx › XF104

Genetic risk variants for multiple sclerosis are linked to differences in alternative pre-mRNA splicing.

Putscher E et al.

Frontiers in Immunology, 2022

U2AF2 binds IL7R exon 6 ectopically and represses its inclusion.

Schott G et al.

Rna (new York, N.y.), 2021

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

A bioinformatic approach to investigating cytokine genes and their receptor variants in relation to COVID-19 progression.

Karakas Celik S et al.

International Journal of Immunogenetics, 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

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

Assessment of IL-7RA T244I Polymorphism as a Risk Factor of Multiple Sclerosis in Turkish Population.

Ünsal MA et al.

Noro Psikiyatri Arsivi, 2020

Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.

Zheng X et al.

The Journal of Rheumatology, 2020

Interleukin 7 receptor T244I polymorphism and the multiple sclerosis susceptibility: a meta-analysis.

Sahami-Fard MH et al.

Journal of Neuroimmunology, 2020

IL7RA genetic variants differentially affect IL-7Rα expression and alternative splicing: a role in autoimmune and infectious diseases?

Lundtoft C et al.

Genes and Immunity, 2020

Deleterious and Oncogenic Mutations in the IL7RA.

Campos LW et al.

Cancers, 2019

An IL7RA exon 5 polymorphism is associated with impaired IL-7Rα splicing and protection against tuberculosis in Ghana.

Lundtoft C et al.

Genes and Immunity, 2019

Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population.

Simsek H et al.

Journal of Molecular Neuroscience : Mn, 2019

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

Whole-exome sequencing insights into pulmonary artery sarcoma mimicking pulmonary embolism: a case report and review.

Wu Y et al.

Oncotargets and Therapy, 2019

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

Multiple sclerosis genetics: Results from meta-analyses of candidate-gene association studies.

Tizaoui K

Cytokine, 2018

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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."