Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.N647I
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JAK3

NM_000215.4:p.N647I

Associated Papers

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

39979591 (PubMed )
Supplement: 41598_2025_90788_MOESM2_ESM.docx

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

STAT3 and STAT5B Mutations in T/NK-Cell Chronic Lymphoproliferative Disorders of Large Granular Lymphocytes (LGL): Association with Disease Features.

Muñoz-García N et al.

Cancers, 2020

Oncogenic activation of the STAT3 pathway drives PD-L1 expression in natural killer/T-cell lymphoma.

Song TL et al.

Blood, 2018

Frequent Mutations in Natural Killer/T Cell Lymphoma.

Zhang Y et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

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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."