Varaico: Literature-Extracted Genetic Variants

Gene:AZI2
Variant:p.R228R

AZI2

104 papers

RefSeq Summary

AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]...

Pfam Domains

TBDaa 213–265UCSCTBD domain

Gene Aliases

HGNC Name

5-azacytidine induced 2

HGNC Alias Symbols

NAP1; FLJ21939; AZ2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022461.5
p.R228R
c.682A>C
Surrounding Variants
1 paper
NM_022461.5
p.R228K
c.683G>A
1 paper
NM_022461.5
p.E229A
c.686A>C
1 paper
NM_022461.5
p.L226Q
c.677T>A
2 papers
NM_022461.5
p.E229insFs
c.687dupA
1 paper
NM_022461.5
p.W224*
c.672G>A
1 paper
NM_022461.5
p.W224*
c.671G>A
1 paper
NM_022461.5
p.N232D
c.694A>G
1 paper
NM_022461.5
p.D269N
c.805G>A
1 paper
NM_022461.5
p.M276L
c.826A>T
1 paper
NM_022461.5
p.M276L
c.826A>C
1 paper
NM_022461.5
p.T281A
c.841A>G
1 paper
NM_022461.5
p.Y282C
c.845A>G
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