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.A567_Y571delFs

c.1699_1711del13

Surrounding Variants

1 paper

NM_001556.3

p.R568M

c.1703G>T

1 paper

NM_001556.3

p.E569*

c.1705G>T

1 paper

NM_001556.3

p.R575M

c.1724G>T

1 paper

NM_001556.3

p.R579Q

c.1736G>A

1 paper

NM_001556.3

p.R582*

c.1744C>T

1 paper

NM_001556.3

p.R582Q

c.1745G>A

1 paper

NM_001556.3

p.M590V

c.1768A>G

1 paper

NM_001556.3

p.L594L

c.1780C>T

1 paper

NM_001556.3

p.L594P

c.1781T>C

1 paper

NM_001556.3

p.E602K

c.1804G>A

1 paper

NM_001556.3

p.K603delFs

c.1809delG

1 paper

NM_001556.3

p.I608I

c.1824C>A