Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA

NFKBIA

436 papers

RefSeq Summary

This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are...

Pfam Domains

Ankaa 111–142UCSCAnkyrin repeat
Ankaa 143–171UCSCAnkyrin repeat
Ankaa 182–214UCSCAnkyrin repeat
Ankaa 216–248UCSCAnkyrin repeat

Gene Aliases

HGNC Name

NFKB inhibitor alpha

HGNC Previous Symbol

NFKBI

Papers
RefSeq ID
Protein change
DNA change
1–12 of 428 variants
26 papers
NM_020529.3
p.S32I
c.95G>T
18 papers
NM_020529.3
p.E294G
c.881A>G
16 papers
NM_020529.3
p.Q9*
c.25C>T
13 papers
NM_020529.3
p.W11*
c.33G>A
13 papers
NM_020529.3
p.S36A
c.106T>G
12 papers
NM_020529.3
p.W11*
c.32G>A
12 papers
NM_020529.3
p.S36Y
c.107C>A
11 papers
NM_020529.3
p.E14*
c.40G>T
7 papers
NM_020529.3
p.D31N
c.91G>A
7 papers
NM_020529.3
p.H173H
c.519C>T
5 papers
NM_020529.3
p.G33V
c.98G>T
5 papers
NM_020529.3
p.M37K
c.110T>A
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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."