Varaico: Literature-Extracted Genetic Variants

NFKBIE

103 papers

RefSeq Summary

The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein...

Pfam Domains

Ank_2aa 124–218UCSCAnkyrin repeats (3 copies)

Ank_2aa 167–261UCSCAnkyrin repeats (3 copies)

Ank_2aa 235–328UCSCAnkyrin repeats (3 copies)

Ankaa 294–325UCSCAnkyrin repeat

Ankaa 326–354UCSCAnkyrin repeat

Gene Aliases

HGNC Name

NFKB inhibitor epsilon

HGNC Alias Symbol

IKBE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004556.3

p.T33I

c.98C>T

Surrounding Variants

2 papers

NM_004556.3

p.G39E

c.116G>A

1 paper

NM_004556.3

p.R27H

c.80G>A

1 paper

NM_004556.3

p.P40L

c.119C>T

1 paper

NM_004556.3

p.L26V

c.76C>G

1 paper

NM_004556.3

p.P40_S41insFs

c.118_122dup5

1 paper

NM_004556.3

p.G43fs

c.127_128fs

1 paper

NM_004556.3

p.Q46delFs

c.137delT

1 paper

NM_004556.3

p.P47S

c.139C>T

1 paper

NM_004556.3

p.P47delFs

c.139delG

1 paper

NM_004556.3

p.D17Y

c.49G>T

1 paper

NM_004556.3

p.E57fs

c.169_170fs

1 paper

NM_004556.3

p.K61M

c.182A>T