Varaico: Literature-Extracted Genetic Variants

Gene:AIM2
Variant:p.T343fs

AIM2

137 papers

RefSeq Summary

AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, ...

Pfam Domains

PYRINaa 8–79UCSCPAAD/DAPIN/Pyrin domain
HINaa 150–317UCSCHIN-200/IF120x domain

Gene Aliases

HGNC Name

absent in melanoma 2

HGNC Alias Symbol

PYHIN4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_004833.3
p.T343fs
c.1027_1028fs
Surrounding Variants
1 paper
NM_004833.3
p.T343insFs
c.1029dupA
3 papers
NM_004833.3
p.*344E
c.1030T>G
1 paper
NM_004833.3
p.*344K
c.1030T>A
3 papers
NM_004833.3
p.T343insFs
c.1027dupA
11 papers
NM_004833.3
p.T343delFs
c.1027delT
1 paper
NM_004833.3
p.K342_T343delFs
c.1026_1027delTT
4 papers
NM_004833.3
p.T343fs
c.1027_1028fs
1 paper
NM_004833.3
p.*344*
c.1032G>A
2 papers
NM_004833.3
p.K342fs
c.1024_1025fs
2 papers
NM_004833.3
p.K340fs
c.1018_1019fs
1 paper
NM_004833.3
p.I334K
c.1001T>A
1 paper
NM_004833.3
p.S332I
c.995G>T
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