Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.A550T

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_001257361.2
p.A550T
c.1648G>A
Surrounding Variants
1 paper
NM_001368809.2
p.H618_L619insFs
c.1854_1855ins4
1 paper
NM_001368809.2
p.Y608*
c.1824C>A
1 paper
NM_001368809.2
p.Y608*
c.1824C>G
1 paper
NM_001368809.2
p.R620S
c.1858C>A
2 papers
NM_001368809.2
p.R620H
c.1859G>A
1 paper
NM_001368809.2
p.R620L
c.1859G>T
1 paper
NM_001368809.2
p.A603T
c.1807G>A
1 paper
NM_001368809.2
p.A603P
c.1807G>C
1 paper
NM_001368809.2
p.E596E
c.1788G>A
2 papers
NM_001308170.1
p.S551delFs
c.1652delG
1 paper
NM_001308170.1
p.D550N
c.1648G>A
1 paper
NM_001368809.2
p.V567delFs
c.1700_1701delTG
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