Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.I317Splc

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.I317Splc
c.950+1G>A
Surrounding Variants
1 paper
NM_001368809.2
p.V307L
c.919G>T
3 papers
NM_001368809.2
p.Y295*
c.885C>A
3 papers
NM_001368809.2
p.Y295*
c.885C>G
1 paper
NM_001257361.2
p.E228*
c.682G>T
1 paper
NM_001368809.2
p.V275M
c.823G>A
2 papers
NM_001368809.2
p.R270delFs
c.808delC
2 papers
NM_001368809.2
p.R324W
c.970C>T
2 papers
NM_001368809.2
p.R324P
c.971G>C
1 paper
NM_001368809.2
p.S259S
c.777C>T
1 paper
NM_001368809.2
p.S329_K331del3
c.985_992del9
1 paper
NM_001368809.2
p.Q333*
c.997C>T
2 papers
NM_001368809.2
p.H335H
c.1005T>C
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