Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.K658M
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STAT3

NM_139276.3:p.K658M

Associated Papers

Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review.

Zhou P et al.

Frontiers in Pediatrics, 2025

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Wyatt RC et al.

Journal of Clinical Immunology, 2023

36600150 (PubMed )
Supplement: 10875_2022_1428_MOESM1_ESM.docx

A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.

Deng M et al.

Frontiers in Immunology, 2022

High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls.

Valori M et al.

Plos One, 2022

Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation.

Sarfati E et al.

Journal of Clinical Immunology, 2021

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

Chandrasekaran P et al.

The Journal of Allergy and Clinical Immunology, 2016

Clinical relevance of sensitive and quantitative STAT3 mutation analysis using next-generation sequencing in T-cell large granular lymphocytic leukemia.

Kristensen T et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Uncovering the pathogenesis of large granular lymphocytic leukemia-novel STAT3 and STAT5b mutations.

Rajala HL et al.

Annals of Medicine, 2014

STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia.

Jerez A et al.

Blood, 2012

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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."