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.L315insFs

c.944_945insG

Surrounding Variants

1 paper

NM_001556.3

p.L315_N316insFs

c.945_946insC

1 paper

NM_001556.3

p.V318insFs

c.952_953insA

1 paper

NM_001556.3

p.V318D

c.953T>A

1 paper

NM_001556.3

p.T321I

c.962C>T

1 paper

NM_001556.3

p.T324P

c.970A>C

1 paper

NM_001556.3

p.P326insFs

c.977_978insC

1 paper

NM_001556.3

p.E331*

c.991G>T

1 paper

NM_001556.3

p.S335T

c.1004G>C

1 paper

NM_001556.3

p.A338insFs

c.1012_1013insT

1 paper

NM_001556.3

p.R339_I340delFs

c.1017_1018delAA

1 paper

NM_001556.3

p.I340N

c.1019T>A

1 paper

NM_001556.3

p.Q341insFs

c.1022_1023insT