Varaico: Literature-Extracted Genetic Variants

Gene:AIM2
Variant:p.M1V

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
2 papers
NM_004833.3
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_004833.3
p.M1T
c.2T>C
1 paper
NM_004833.3
p.K6R
c.17A>G
1 paper
NM_004833.3
p.E7A
c.20A>C
1 paper
NM_004833.3
p.L10M
c.28T>A
1 paper
NM_004833.3
p.T12T
c.36A>T
1 paper
NM_004833.3
p.G13V
c.38G>T
1 paper
NM_004833.3
p.D15A
c.44A>C
1 paper
NM_004833.3
p.D19Y
c.55G>T
4 papers
NM_004833.3
p.D19A
c.56A>C
4 papers
NM_004833.3
p.E20A
c.59A>C
3 papers
NM_004833.3
p.E21A
c.62A>C
3 papers
NM_004833.3
p.D23A
c.68A>C
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