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.C524Y

c.1571G>A

Surrounding Variants

1 paper

NM_001556.3

p.G525R

c.1573G>A

1 paper

NM_001556.3

p.R526G

c.1576C>G

1 paper

NM_001556.3

p.E522G

c.1565A>G

6 papers

NM_001556.3

p.R526Q

c.1577G>A

4 papers

NM_001556.3

p.E518K

c.1552G>A

1 paper

NM_001556.3

p.L510_W514delFs

c.1528_1540del13

1 paper

NM_001556.3

p.S507*

c.1520C>A

1 paper

NM_001556.3

p.S507*

c.1520C>G

1 paper

NM_001556.3

p.G504E

c.1511G>A

2 papers

NM_001556.3

p.E502K

c.1504G>A

1 paper

NM_001556.3

p.E499K

c.1495G>A

1 paper

NM_001556.3

p.I490T

c.1469T>C