Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIB
Variant:p.Q69L

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
2 papers
NM_002503.5
p.Q69L
c.206A>T
Surrounding Variants
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
2 papers
NM_002503.5
p.R144C
c.430C>T
1 paper
NM_002503.5
p.Y161C
c.482A>G
2 papers
NM_002503.5
p.R168C
c.502C>T
1 paper
NM_002503.5
p.D195A
c.584A>C
1 paper
NM_002503.5
p.V213G
c.638T>G
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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."