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

1–12 of 26 variants

2 papers

NM_002503.5

p.Q69L

c.206A>T

2 papers

NM_002503.5

p.R144C

c.430C>T

2 papers

NM_002503.5

p.R168C

c.502C>T

1 paper

NM_002503.5

p.L7S

c.20T>C

1 paper

NM_002503.5

p.L21Q

c.62T>A

1 paper

NM_002503.5

p.G25R

c.73G>C

1 paper

NM_002503.5

p.D27D

c.81C>T

1 paper

NM_002503.5

p.A65V

c.194C>T

1 paper

NM_002503.5

p.A118A

c.354C>T

1 paper

NM_002503.5

p.G127C

c.379G>T

1 paper

NM_002503.5

p.T129M

c.386C>T

1 paper

NM_002503.5

p.Y161C

c.482A>G