Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.P52H

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.P52H
c.155C>A
Surrounding Variants
4 papers
NM_001368809.2
p.C53delFs
c.157delT
1 paper
NM_001368809.2
p.C53fs
c.157_158fs
2 papers
NM_001368809.2
p.C53fs
c.157_158fs
1 paper
NM_001368809.2
p.P48L
c.143C>T
1 paper
NM_001368809.2
p.L47V
c.139C>G
1 paper
NM_001368809.2
p.L61ins1
c.181_182insGAC
1 paper
NM_001368809.2
p.R62_D66delFs
c.184_196del13
1 paper
NM_001368809.2
p.S43insFs
c.128_129dupCT
1 paper
NM_001368809.2
p.P40L
c.119C>T
1 paper
NM_001368809.2
p.D66_G67del1
c.197_199delATG
1 paper
NM_001368809.2
p.D66_G67del2
c.196_200del6
1 paper
NM_001368809.2
p.A38delFs
c.112delG
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