rs2487011272

This variant is located in the IKBKB gene.

▶

ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Severe combined immunodeficiency due to IKK2 deficiency

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…