Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2

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
1–12 of 166 variants
6 papers
NM_001368809.2
p.A82T
c.244G>A
4 papers
NM_001368809.2
p.C53delFs
c.157delT
3 papers
NM_001257361.2
p.S107delFs
c.319delT
3 papers
NM_001368809.2
p.Y295*
c.885C>A
3 papers
NM_001368809.2
p.Y295*
c.885C>G
3 papers
NM_001257361.2
p.A349A
c.1047C>A
3 papers
NM_001368809.2
p.R486Q
c.1457G>A
3 papers
NM_001368809.2
p.Y698*
c.2094C>A
3 papers
NM_001368809.2
p.Y698*
c.2094C>G
3 papers
NM_139156.4
p.T752T
c.2256C>G
2 papers
NM_001368809.2
p.C53fs
c.157_158fs
2 papers
NM_001368809.2
p.R111delFs
c.333delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."