Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.A723D
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JAK1

NM_002227.4:p.A723D

Associated Papers

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.

Jeanpierre M et al.

Embo Molecular Medicine, 2025

41136770 (PubMed )
Supplement: 44321_2025_317_MOESM3_ESM.xlsx › Sheet1

Mechanisms of action and resistance in histone methylation-targeted therapy.

Yamagishi M et al.

Nature, 2024

38383791 (PubMed )
Supplement: 41586_2024_7103_MOESM3_ESM.xlsx › Sup_Table_4

Mutations leading to constitutive active gp130/JAK1/STAT3 pathway.

Pilati C et al.

Cytokine & Growth Factor Reviews, 2015

Genomic profiling of hepatocellular adenomas reveals recurrent FRK-activating mutations and the mechanisms of malignant transformation.

Pilati C et al.

Cancer Cell, 2014

Oncogenic JAK1 and JAK2-activating mutations resistant to ATP-competitive inhibitors.

Hornakova T et al.

Haematologica, 2011

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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."