Varaico: Literature-Extracted Genetic Variants

IKBKB

345 papers

RefSeq Summary

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 fou...

Pfam Domains

Pkinaseaa 15–298UCSCProtein kinase domain

IKBKB_SDDaa 389–663UCSCIQBAL scaffold dimerization domain

IKKbetaNEMObindaa 642–678UCSCI-kappa-kinase-beta NEMO binding domain

Gene Aliases

HGNC Name

inhibitor of nuclear factor kappa B kinase subunit beta

HGNC Alias Symbols

IKK2; NFKBIKB; IKK-beta; IKKB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 303 variants

17 papers

NM_001556.3

p.V203I

c.607G>A

14 papers

NM_001556.3

p.G431insFs

c.1292dupG

11 papers

NM_001556.3

p.K44M

c.131A>T

11 papers

NM_001556.3

p.K171E

c.511A>G

9 papers

NM_001556.3

p.S181A

c.541T>G

7 papers

NM_001556.3

p.K171R

c.512A>G

7 papers

NM_001556.3

p.R286*

c.856C>T

6 papers

NM_001556.3

p.R526Q

c.1577G>A

5 papers

NM_001556.3

p.K171T

c.512A>C

5 papers

NM_001556.3

p.R272*

c.814C>T

5 papers

NM_001556.3

p.T559M

c.1676C>T

4 papers

NM_001556.3

p.Y107*

c.321C>A