Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.R324W

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.R324W
c.970C>T
Surrounding Variants
2 papers
NM_001368809.2
p.R324P
c.971G>C
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
1 paper
NM_001368809.2
p.K342K
c.1026G>A
1 paper
NM_001368809.2
p.A346V
c.1037C>T
2 papers
NM_001368809.2
p.N357S
c.1070A>G
2 papers
NM_001368809.2
p.I317Splc
c.950+1G>A
1 paper
NM_001368809.2
p.V307L
c.919G>T
2 papers
NM_001368809.2
p.C370delFs
c.1110delC
3 papers
NM_001308170.1
p.C349*
c.1047C>A
NM_001368809.2
p.C370*
c.1110C>A
1 paper
NM_001368809.2
p.H375D
c.1123C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."