Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.K298N
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STAT1

NM_007315.4:p.K298N

Associated Papers

Lysine vitcylation is a vitamin C-derived protein modification that enhances STAT1-mediated immune response.

He X et al.

Cell, 2025

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

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Asano T et al.

Immunological Reviews, 2024

Lysine vitcylation is a novel vitamin C-derived protein modification that enhances STAT1-mediated immune response.

He X et al.

Biorxiv : the Preprint Server for Biology, 2023

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.

Deyà-Martínez A et al.

Journal of Clinical Immunology, 2022

35486339 (PubMed )
Supplement: 10875_2022_1257_MOESM1_ESM.docx

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Zhang W et al.

Frontiers in Immunology, 2021

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Okada S et al.

Journal of Clinical Immunology, 2020

A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.

Martinez-Martinez L et al.

Molecular Immunology, 2015

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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."