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

Selected Variant

5 papers

NM_001556.3

p.K171T

c.512A>C

Surrounding Variants

7 papers

NM_001556.3

p.K171R

c.512A>G

2 papers

NM_001556.3

p.K171M

c.512A>T

11 papers

NM_001556.3

p.K171E

c.511A>G

4 papers

NM_001556.3

p.Y169F

c.506A>T

1 paper

NM_001556.3

p.D174H

c.520G>C

1 paper

NM_001556.3

p.G168R

c.502G>A

1 paper

NM_001556.3

p.Q175*

c.523C>T

1 paper

NM_001556.3

p.D166A

c.497A>C

9 papers

NM_001556.3

p.S181A

c.541T>G

1 paper

NM_001556.3

p.S181L

c.542C>T

1 paper

NM_001556.3

p.Q187*

c.559C>T

1 paper

NM_001556.3

p.V152I

c.454G>A