rs12720334

This variant is located in the TYK2 gene.

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ClinVar annotation

Benign★★★☆

2 submitters

Immunodeficiency 35; not provided

About TYK2

This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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