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.L560delFs

c.1680delG

Surrounding Variants

5 papers

NM_001556.3

p.T559M

c.1676C>T

1 paper

NM_001556.3

p.T559fs

c.1675_1676fs

1 paper

NM_001556.3

p.R554Q

c.1661G>A

1 paper

NM_001556.3

p.P551L

c.1652C>T

2 papers

NM_001556.3

p.D543N

c.1627G>A

1 paper

NM_001556.3

p.A539S

c.1615G>T

3 papers

NM_001556.3

p.R536W

c.1606C>T

1 paper

NM_001556.3

p.E529K

c.1585G>A

1 paper

NM_001556.3

p.E529Q

c.1585G>C

1 paper

NM_001556.3

p.E527*

c.1579G>T

1 paper

NM_001556.3

p.A567_Y571delFs

c.1699_1711del13

1 paper

NM_001556.3

p.R568M

c.1703G>T