Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.S259S

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.S259S
c.777C>T
Surrounding Variants
2 papers
NM_001368809.2
p.H251Y
c.751C>T
2 papers
NM_001368809.2
p.R270delFs
c.808delC
1 paper
NM_001308170.1
p.E228*
c.682G>T
1 paper
NM_001368809.2
p.P245P
c.735C>T
1 paper
NM_001368809.2
p.H244Q
c.732C>A
1 paper
NM_001368809.2
p.V275M
c.823G>A
1 paper
NM_001257361.2
p.E228*
c.682G>T
3 papers
NM_001368809.2
p.Y295*
c.885C>A
3 papers
NM_001368809.2
p.Y295*
c.885C>G
1 paper
NM_001368809.2
p.V307L
c.919G>T
2 papers
NM_001368809.2
p.I317Splc
c.950+1G>A
1 paper
NM_001368809.2
p.A202S
c.604G>T
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