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.E442A

c.1325A>C

Surrounding Variants

1 paper

NM_001556.3

p.T439I

c.1316C>T

2 papers

NM_001556.3

p.R446W

c.1336C>T

1 paper

NM_001556.3

p.Q438H

c.1314G>C

1 paper

NM_001556.3

p.Q438H

c.1314G>T

1 paper

NM_001556.3

p.R446Q

c.1337G>A

1 paper

NM_001556.3

p.Q449R

c.1346A>G

1 paper

NM_001556.3

p.H435fs

c.1303_1304fs

1 paper

NM_001556.3

p.G450R

c.1348G>A

1 paper

NM_001556.3

p.Q432H

c.1296G>C

1 paper

NM_001556.3

p.Q432H

c.1296G>T

1 paper

NM_001556.3

p.Q432*

c.1294C>T

2 papers

NM_001556.3

p.Q432fs

c.1294_1295fs