Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.R667*
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STAT2

NM_005419.4:p.R667*

Associated Papers

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

Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children.

López-Nevado M et al.

Journal of Clinical Immunology, 2023

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Bucciol G et al.

The Journal of Clinical Investigation, 2023

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

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

Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency.

Freij BJ et al.

Frontiers in Immunology, 2020

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