Varaico: Literature-Extracted Genetic Variants

Gene:SYK
Variant:p.P342T
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SYK

NM_003177.7:p.P342T

Associated Papers

Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.

Edwards ESJ et al.

Journal of Clinical Immunology, 2025

Development of SYK NanoBRET Cellular Target Engagement Assays for Gain-of-Function Variants.

Capener JL et al.

Biorxiv : the Preprint Server for Biology, 2024

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.

Wang L et al.

Nature Genetics, 2021

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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."