Varaico: Literature-Extracted Genetic Variants

Gene:TYK2
Variant:p.R638*
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TYK2

NM_003331.5:p.R638*

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

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.

Skouboe MK et al.

Pathogens (basel, Switzerland), 2023

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.

Ogishi M et al.

The Journal of Experimental Medicine, 2022

Novel mutations of TYK2 leading to divergent clinical phenotypes.

Lv G et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

A New Patient with Inherited TYK2 Deficiency.

Sarrafzadeh SA et al.

Journal of Clinical Immunology, 2020

A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review.

Wu P et al.

Frontiers in Pediatrics, 2020

Mycobacterium Intracellulare Infection Associated with TYK2 Deficiency: A Case Report and Review of the Literature.

Guo W et al.

Infection and Drug Resistance, 2020

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Boisson-Dupuis S et al.

Science Immunology, 2018

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.

Fuchs S et al.

European Journal of Immunology, 2016

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Kreins AY et al.

The Journal of Experimental Medicine, 2015

A new heterozygous TYK2 gene mutation: Case report and review of the literature.

Xie L et al.

International Journal of Immunopathology and Pharmacology, 0

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