Varaico: Literature-Extracted Genetic Variants

Gene:AIM2
Variant:p.L29_S30delFs

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
1 paper
NM_004833.3
p.L29_S30delFs
c.86_89del4
Surrounding Variants
1 paper
NM_004833.3
p.L29fs
c.85_86fs
1 paper
NM_004833.3
p.L29P
c.86T>C
1 paper
NM_004833.3
p.E32Q
c.94G>C
4 papers
NM_004833.3
p.E32K
c.94G>A
2 papers
NM_004833.3
p.F27L
c.81C>G
2 papers
NM_004833.3
p.F27L
c.81C>A
1 paper
NM_004833.3
p.F27Y
c.80T>A
2 papers
NM_004833.3
p.F27L
c.79T>C
1 paper
NM_004833.3
p.K26R
c.77A>G
1 paper
NM_004833.3
p.K26E
c.76A>G
1 paper
NM_004833.3
p.K26Q
c.76A>C
1 paper
NM_004833.3
p.A36T
c.106G>A
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