Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.V804insFs

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.V804insFs
c.2411_2412ins4
Surrounding Variants
2 papers
NM_001308170.1
p.E793*
c.2377G>T
1 paper
NM_001368809.2
p.C794Y
c.2381G>A
2 papers
NM_001368809.2
p.R789H
c.2366G>A
3 papers
NM_139156.4
p.T752T
c.2256C>G
1 paper
NM_001368809.2
p.K768Q
c.2302A>C
1 paper
NM_001368809.2
p.G763A
c.2288G>C
2 papers
NM_001368809.2
p.G752G
c.2256C>G
1 paper
NM_001368809.2
p.S751R
c.2253C>A
1 paper
NM_001368809.2
p.S751R
c.2253C>G
1 paper
NM_001368809.2
p.S751R
c.2251A>C
1 paper
NM_001368809.2
p.V748insFs
c.2243dupT
1 paper
NM_001368809.2
p.N746fs
c.2236_2237fs
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