Varaico: Literature-Extracted Genetic Variants

Gene:AIM2

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
1–12 of 121 variants
11 papers
NM_004833.3
p.T343delFs
c.1027delT
9 papers
NM_004833.3
p.T343fs
c.1027_1028fs
4 papers
NM_004833.3
p.D19A
c.56A>C
4 papers
NM_004833.3
p.E20A
c.59A>C
4 papers
NM_004833.3
p.E32K
c.94G>A
4 papers
NM_004833.3
p.T343fs
c.1027_1028fs
3 papers
NM_004833.3
p.E21A
c.62A>C
3 papers
NM_004833.3
p.D23A
c.68A>C
3 papers
NM_004833.3
p.T343insFs
c.1027dupA
3 papers
NM_004833.3
p.*344E
c.1030T>G
2 papers
NM_004833.3
p.M1V
c.1A>G
2 papers
NM_004833.3
p.F27L
c.79T>C
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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."