rs1812326855
This variant is located in the IKBKB gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters1 publicationImmunodeficiency 15a; Severe combined immunodeficiency due to IKK2 deficiency
View on ClinVar →About IKBKB
The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
View all IKBKB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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