Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.S185C
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IL7R

NM_002185.5:p.S185C

Associated Papers

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

Comparative Analysis of Comprehensive Genomic Profile in Thymomas and Recurrent Thymomas Reveals Potentially Actionable Mutations for Target Therapies.

Lococo F et al.

International Journal of Molecular Sciences, 2024

39273507 (PubMed )
Supplement: ijms-25-09560-s001.zip › Supplementary_Table_S1.pdf

Unpaired cysteine insertions favor transmembrane dimerization and induce ligand-independent constitutive cytokine receptor signaling.

Baumgärtner LAF et al.

Biological Chemistry, 2024

RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.

Kubota H et al.

Blood Advances, 2024

38127276 (PubMed )
Supplement: BLOODA_ADV-2023-011583-mmc1.xlsx › Sup.9

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.

Standing S et al.

Cancers, 2022

Deregulation of the Interleukin-7 Signaling Pathway in Lymphoid Malignancies.

Lodewijckx I et al.

Pharmaceuticals (basel, Switzerland), 2021

Deleterious and Oncogenic Mutations in the IL7RA.

Campos LW et al.

Cancers, 2019

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM10_ESM.xlsx › 7A.ALL_PATHOLOGIC_FINDINGS

Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Vesely C et al.

Leukemia, 2017

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Lindqvist CM et al.

Oncotarget, 2016

27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations

Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.

Messina M et al.

Oncotarget, 2016

Interleukin-7 receptor-α gene mutations are not detected in adult T-cell acute lymphoblastic leukemia.

Rozovski U et al.

Cancer Medicine, 2014

Lymphoid malignancies: Another face to the Janus kinases.

Scott LM

Blood Reviews, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Differences in signaling through the B-cell leukemia oncoprotein CRLF2 in response to TSLP and through mutant JAK2.

van Bodegom D et al.

Blood, 2012

Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias.

Shochat C et al.

The Journal of Experimental Medicine, 2011

Understanding the biology of CRLF2-overexpressing acute lymphoblastic leukemia.

Tasian SK et al.

Critical Reviews in Oncogenesis, 2011

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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."