Varaico: Literature-Extracted Genetic Variants

NFKBIB

41 papers

RefSeq Summary

The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these ...

Pfam Domains

Ank_2aa 1–68UCSCAnkyrin repeats (3 copies)

Ankaa 57–92UCSCAnkyrin repeat

Ankaa 93–124UCSCAnkyrin repeat

Ankaa 126–151UCSCAnkyrin repeat

Ank_2aa 190–271UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

NFKB inhibitor beta

HGNC Alias Symbols

IKBB; TRIP9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002503.5

p.V213G

c.638T>G

Surrounding Variants

1 paper

NM_002503.5

p.A214A

c.642C>T

1 paper

NM_002503.5

p.T239K

c.716C>A

1 paper

NM_002503.5

p.R242W

c.724C>T

1 paper

NM_002503.5

p.P287S

c.859C>T

1 paper

NM_002503.5

p.A290T

c.868G>A

1 paper

NM_002503.5

p.G303D

c.908G>A

1 paper

NM_002503.5

p.P310P

c.930C>T

1 paper

NM_002503.5

p.G320*

c.958G>T

1 paper

NM_002503.5

p.E322K

c.964G>A

1 paper

NM_002503.5

p.S336insFs

c.1008dupC

1 paper

NM_002503.5

p.T338P

c.1012A>C

1 paper

NM_002503.5

p.L340R

c.1019T>G