Varaico: Literature-Extracted Genetic Variants

Gene:AZI2
Variant:p.L69delFs

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.L69delFs
c.206delA
Surrounding Variants
1 paper
NM_022461.5
p.L69fs
c.205_206fs
1 paper
NM_022461.5
p.E70A
c.209A>C
1 paper
NM_022461.5
p.I66V
c.196A>G
1 paper
NM_022461.5
p.K63K
c.189G>A
1 paper
NM_022461.5
p.L61insFs
c.181_182insT
1 paper
NM_022461.5
p.E58E
c.174G>A
1 paper
NM_022461.5
p.E58K
c.172G>A
1 paper
NM_022461.5
p.E56E
c.168G>A
1 paper
NM_022461.5
p.E56A
c.167A>C
1 paper
NM_022461.5
p.E56_K57insG
c.166_170ins3
1 paper
NM_022461.5
p.R51Q
c.152G>A
1 paper
NM_022461.5
p.I48N
c.143T>A
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