Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.A877V
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JAK3

NM_000215.4:p.A877V

Associated Papers

Genetics in a Danish Common Variable Immunodeficiency Cohort.

Drabe CH et al.

Journal of Clinical Immunology, 2025

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

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

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB et al.

Haematologica, 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."