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.A121V

c.362C>T

Surrounding Variants

1 paper

NM_001556.3

p.A121D

c.362C>A

1 paper

NM_001556.3

p.A121G

c.362C>G

1 paper

NM_001556.3

p.L123F

c.367C>T

1 paper

NM_001556.3

p.L123P

c.368T>C

1 paper

NM_001556.3

p.R118R

c.354G>A

1 paper

NM_001556.3

p.L117P

c.350T>C

1 paper

NM_001556.3

p.G116D

c.347G>A

1 paper

NM_001556.3

p.S127T

c.380G>C

1 paper

NM_001556.3

p.E112A

c.335A>C

1 paper

NM_001556.3

p.N109S

c.326A>G

4 papers

NM_001556.3

p.Y107*

c.321C>A

4 papers

NM_001556.3

p.Y107*

c.321C>G