Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIZ
Variant:p.Q481_S482Splc

NFKBIZ

141 papers

RefSeq Summary

This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence si...

Pfam Domains

Ank_2aa 484–579UCSCAnkyrin repeats (3 copies)
Ank_2aa 584–683UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

NFKB inhibitor zeta

HGNC Alias Symbols

MAIL; FLJ34463; INAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031419.4
p.Q481_S482Splc
c.1444-2A>C
Surrounding Variants
1 paper
NM_031419.4
p.N491S
c.1472A>G
1 paper
NM_031419.4
p.C520W
c.1560T>G
1 paper
NM_031419.4
p.E522*
c.1564G>T
1 paper
NM_031419.4
p.E522E
c.1566G>A
1 paper
NM_031419.4
p.L529fs
c.1585_1586fs
1 paper
NM_031419.4
p.Q533R
c.1598A>G
1 paper
NM_031419.4
p.A469A
c.1407A>G
1 paper
NM_031419.4
p.L463F
c.1387C>T
1 paper
NM_031419.4
p.T554I
c.1661C>T
1 paper
NM_031419.4
p.P555del1
c.1663_1664delCCC
1 paper
NM_031419.4
p.H568Y
c.1702C>T
1 paper
NM_031419.4
p.E569E
c.1707A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."