Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.S685insFs

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.S685insFs
c.2054_2055ins4
Surrounding Variants
1 paper
NM_001368809.2
p.P680L
c.2039C>T
1 paper
NM_001368809.2
p.E697D
c.2091G>C
1 paper
NM_001368809.2
p.E697D
c.2091G>T
3 papers
NM_001368809.2
p.Y698*
c.2094C>A
3 papers
NM_001368809.2
p.Y698*
c.2094C>G
2 papers
NM_139156.4
p.R674H
c.2021G>A
1 paper
NM_001368809.2
p.A662_P663insFs
c.1986_1987ins4
1 paper
NM_001368809.2
p.D710N
c.2128G>A
1 paper
NM_001368809.2
p.Q714*
c.2140C>T
1 paper
NM_001368809.2
p.E720*
c.2158G>T
2 papers
NM_001368809.2
p.E724D
c.2172G>C
2 papers
NM_001368809.2
p.E724D
c.2172G>T
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