rs369780780

This variant is located in the IRF3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About IRF3

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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