Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.S700N
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JAK1

NM_002227.4:p.S700N

Associated Papers

A potential role for monoallelic expression in penetrance of autosomal dominant inborn errors of immunity.

Edwards ES et al.

Immunology and Cell Biology, 2025

Monoallelic expression in human immune cells: linking genotype to phenotype.

Hammarström L et al.

Trends in Immunology, 2025

Monoallelic expression can govern penetrance of inborn errors of immunity.

Stewart O et al.

Nature, 2025

Cytokine signaling defects in primary atopic diseases-an updated review.

Thakur V et al.

Frontiers in Allergy, 2025

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

Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.

Horesh ME et al.

The Journal of Experimental Medicine, 2024

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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."