Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.E162G

AMPD2

84 papers

RefSeq Summary

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several...

Pfam Domains

AMP_deaminaseaa 163–806UCSCAMP deaminase

Gene Aliases

HGNC Name

adenosine monophosphate deaminase 2

HGNC Alias Symbol

SPG63

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001368809.2
p.E162G
c.485A>G
Surrounding Variants
1 paper
NM_001368809.2
p.E162E
c.486A>G
1 paper
NM_001368809.2
p.F165delFs
c.495delT
1 paper
NM_001368809.2
p.D159delFs
c.477delT
1 paper
NM_001368809.2
p.D159delFs
c.476delA
2 papers
NM_001368809.2
p.Q166fs
c.496_497fs
1 paper
NM_001368809.2
p.T169delFs
c.507delC
3 papers
NM_001257361.2
p.S107delFs
c.319delT
2 papers
NM_001368809.2
p.E174*
c.520G>T
1 paper
NM_001368809.2
p.G177_V178Splc
c.531+1G>C
1 paper
NM_001368809.2
p.D137Y
c.409G>T
1 paper
NM_001368809.2
p.G177_V178Splc
c.532-1G>T
1 paper
NM_001368809.2
p.T181_D182insGAC
c.541_545ins9
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