rs755978434

This variant is located in the IRF8 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Immunodeficiency 32B;Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; Inborn genetic diseases

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About IRF8

Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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