Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.R117C
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JAK3

NM_000215.4:p.R117C

Associated Papers

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

Wang X et al.

Human Mutation, 2023

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

Different responses to anti-programmed cell death protein 1 (PD-1) immunotherapy in a patient with Lynch syndrome and metachronous urothelial and colon cancer: A case report.

Feng Y et al.

Oncology Letters, 2019

31612019 (PubMed )
Supplement: Supplementary_Data.pdf

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

Persistence of natural killer cells with expansion of a hypofunctional CD56-CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency.

Farnault L et al.

The Journal of Allergy and Clinical Immunology, 2013

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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."