Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.D169E
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JAK3

NM_000215.4:p.D169E

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

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

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

Wang X et al.

Human Mutation, 2023

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

Coco S et al.

Cancers, 2019

30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S5.xlsx › Table_S5

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

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

FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma.

Elliott NE et al.

Blood, 2011

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

Pesu M et al.

Immunological Reviews, 2005

Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.

Roberts JL et al.

Blood, 2004

Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases.

Zhou YJ et al.

Molecular Cell, 2001

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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."