rs138723664
This variant is located in the STAT1 gene.
▶ClinVar annotation
Immunodeficiency 31B;Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; not provided
View on ClinVar →About STAT1
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. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
View all STAT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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