Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.E481G
Back to variants list

JAK3

NM_000215.4:p.E481G

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

Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency.

Liongue C et al.

International Journal of Molecular Sciences, 2024

Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child.

Wang X et al.

Human Mutation, 2023

Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation.

Basheer F et al.

Biomolecules, 2022

A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency.

Khanolkar A et al.

Immunologic Research, 2020

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

Graft versus host disease and microchimerism in a JAK3 deficient patient.

Shahbazi Z et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019

Hyperactivation of Oncogenic JAK3 Mutants Depend on ATP Binding to the Pseudokinase Domain.

Raivola J et al.

Frontiers in Oncology, 2018

Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

Zhong L et al.

Medicine, 2017

Impaired IL-7 signaling may explain a case of atypical JAK3-SCID.

Li J et al.

Cytokine, 2010

Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.

Pesu M et al.

Immunological Reviews, 2005

Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.

Schumacher RF et al.

The Israel Medical Association Journal : Imaj, 2002

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Notarangelo LD et al.

Human Mutation, 2001

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.

Notarangelo LD et al.

Immunological Reviews, 2000

Janus kinases and their role in growth and disease.

Aringer M et al.

Life Sciences, 1999

Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.

Brugnoni D et al.

Blood, 1998

Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

Candotti F et al.

Blood, 1997

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."