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.Q351H

c.1053G>T

Surrounding Variants

1 paper

NM_001556.3

p.E349fs

c.1045_1046fs

1 paper

NM_001556.3

p.L354delFs

c.1062delG

2 papers

NM_001556.3

p.A357V

c.1070C>T

1 paper

NM_001556.3

p.G358C

c.1072G>T

2 papers

NM_001556.3

p.T344M

c.1031C>T

4 papers

NM_001556.3

p.A360S

c.1078G>T

1 paper

NM_001556.3

p.Q341insFs

c.1022_1023insT

1 paper

NM_001556.3

p.I340N

c.1019T>A

1 paper

NM_001556.3

p.R339_I340delFs

c.1017_1018delAA

1 paper

NM_001556.3

p.A338insFs

c.1012_1013insT

1 paper

NM_001556.3

p.T368insFs

c.1102_1103insC

1 paper

NM_001556.3

p.S335T

c.1004G>C