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.C299*

c.897C>A

Surrounding Variants

1 paper

NM_001556.3

p.C299S

c.896G>C

1 paper

NM_001556.3

p.C299S

c.895T>A

1 paper

NM_001556.3

p.G298A

c.893G>C

1 paper

NM_001556.3

p.I306M

c.918C>G

7 papers

NM_001556.3

p.R286*

c.856C>T

2 papers

NM_001556.3

p.H284Y

c.850C>T

3 papers

NM_001556.3

p.W283*

c.849G>A

2 papers

NM_001556.3

p.W283*

c.848G>A

5 papers

NM_001556.3

p.R272*

c.814C>T

1 paper

NM_001556.3

p.E271K

c.811G>A

1 paper

NM_001556.3

p.L315insFs

c.944_945insG

1 paper

NM_001556.3

p.L315_N316insFs

c.945_946insC