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.N225fs

c.673_674fs

Surrounding Variants

1 paper

NM_001556.3

p.N225Y

c.673A>T

1 paper

NM_001556.3

p.W226G

c.676T>G

1 paper

NM_001556.3

p.V229M

c.685G>A

2 papers

NM_001556.3

p.V229A

c.686T>C

2 papers

NM_001556.3

p.I216S

c.647T>G

1 paper

NM_001556.3

p.G209G

c.627C>A

1 paper

NM_001556.3

p.G209S

c.625G>A

1 paper

NM_001556.3

p.F208L

c.624C>A

1 paper

NM_001556.3

p.Y205C

c.614A>G

1 paper

NM_001556.3

p.D204E

c.612C>A

1 paper

NM_001556.3

p.D204Y

c.610G>T

17 papers

NM_001556.3

p.V203I

c.607G>A