rs750452354
This variant is located in the STAT2 gene.
▶ClinVar annotation
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
View on ClinVar →About STAT2
The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]
View all STAT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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