Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.E724D

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
2 papers
NM_001368809.2
p.E724D
c.2172G>T
Surrounding Variants
2 papers
NM_001368809.2
p.E724D
c.2172G>C
1 paper
NM_001368809.2
p.E725G
c.2174A>G
1 paper
NM_001368809.2
p.A729insFs
c.2186_2187ins4
1 paper
NM_001368809.2
p.E720*
c.2158G>T
2 papers
NM_001257361.2
p.C674Y
c.2021G>A
1 paper
NM_001368809.2
p.D739Y
c.2215G>T
2 papers
NM_001368809.2
p.L743P
c.2228T>C
2 papers
NM_001368809.2
p.R745insFs
c.2235dupC
1 paper
NM_001368809.2
p.N746fs
c.2236_2237fs
1 paper
NM_001368809.2
p.V748insFs
c.2243dupT
1 paper
NM_001368809.2
p.S751R
c.2251A>C
1 paper
NM_001368809.2
p.S751R
c.2253C>A
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