Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.R148W
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STAT2

NM_005419.4:p.R148W

Associated Papers

Negative Selection Maintains Grossly Altered but Broadly Stable Karyotypes in Metastatic Colorectal Cancer.

Cross WCH et al.

Cancer Discovery, 2026

41563072 (PubMed )
Supplement: cd-24-0813_supplementary_table_7_suppst7.xlsx › C274

The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer.

Xiang C et al.

Nature Immunology, 2025

The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies.

Demirkaya DB et al.

Expert Review of Clinical Immunology, 2025

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

Djidjik R et al.

Frontiers in Immunology, 2025

Infections in Inborn Errors of STATs.

Wang C et al.

Pathogens (basel, Switzerland), 2024

Type I interferon regulation by USP18 is a key vulnerability in cancer.

Jové V et al.

Iscience, 2024

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.

Zhu G et al.

Journal of Clinical Immunology, 2023

The link between rheumatic disorders and inborn errors of immunity.

Sogkas G et al.

Ebiomedicine, 2023

Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022?

Vergneault H et al.

Immunology, 2023

Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.

Duncan CJA et al.

Journal of Clinical Immunology, 2021

Rare genetic variants in systemic autoimmunity.

Jiang SH et al.

Immunology and Cell Biology, 2020

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.

Gruber C et al.

The Journal of Experimental Medicine, 2020

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA et al.

Science Immunology, 2019

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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."