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

1 paper

NM_001556.3

p.Q45*

c.133C>T

Surrounding Variants

11 papers

NM_001556.3

p.K44M

c.131A>T

1 paper

NM_001556.3

p.R47Q

c.140G>A

1 paper

NM_001556.3

p.I41V

c.121A>G

1 paper

NM_001556.3

p.G38R

c.112G>C

1 paper

NM_001556.3

p.G38_E39insCCC

c.112_116ins9

1 paper

NM_001556.3

p.G38_E39ins10

c.112_116ins30

2 papers

NM_001556.3

p.T37I

c.110C>T

1 paper

NM_001556.3

p.R53W

c.157C>T

2 papers

NM_001556.3

p.R53Q

c.158G>A

1 paper

NM_001556.3

p.N54D

c.160A>G

1 paper

NM_001556.3

p.N54I

c.161A>T

1 paper

NM_001556.3

p.R55*

c.163C>T