Varaico: Literature-Extracted Genetic Variants

Gene:AIM2
Variant:p.N320fs

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.N320fs
c.958_959fs
Surrounding Variants
1 paper
NM_004833.3
p.N320I
c.959A>T
1 paper
NM_004833.3
p.K319R
c.956A>G
1 paper
NM_004833.3
p.L317R
c.950T>G
1 paper
NM_004833.3
p.Q325L
c.974A>T
1 paper
NM_004833.3
p.S332I
c.995G>T
1 paper
NM_004833.3
p.E306A
c.917A>C
1 paper
NM_004833.3
p.E306Q
c.916G>C
1 paper
NM_004833.3
p.E306K
c.916G>A
1 paper
NM_004833.3
p.I334K
c.1001T>A
1 paper
NM_004833.3
p.K305N
c.915G>C
1 paper
NM_004833.3
p.C304R
c.910T>C
1 paper
NM_004833.3
p.L294P
c.881T>C
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