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

2 papers

NM_001556.3

p.E502K

c.1504G>A

Surrounding Variants

1 paper

NM_001556.3

p.G504E

c.1511G>A

1 paper

NM_001556.3

p.E499K

c.1495G>A

1 paper

NM_001556.3

p.I490T

c.1469T>C

1 paper

NM_001556.3

p.I490V

c.1468A>G

2 papers

NM_001556.3

p.S489G

c.1465A>G

1 paper

NM_001556.3

p.A481V

c.1442C>T

1 paper

NM_001556.3

p.K480_A481delFs

c.1438_1442del5

1 paper

NM_001556.3

p.Q477Q

c.1431G>A

1 paper

NM_001556.3

p.M472_L483del12

c.1414_1448del36

1 paper

NM_001556.3

p.K467Q

c.1399A>C

1 paper

NM_001556.3

p.S507*

c.1520C>A

1 paper

NM_001556.3

p.S507*

c.1520C>G