Varaico: Literature-Extracted Genetic Variants

Gene:AMPD3

AMPD3

77 papers

RefSeq Summary

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosph...

Pfam Domains

AMP_deaminaseaa 128–759UCSCAMP deaminase

Gene Aliases

HGNC Name

adenosine monophosphate deaminase 3

HGNC Previous Name

adenosine monophosphate deaminase (isoform E)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
10 papers
NM_001025389.2
p.R573C
c.1717C>T
7 papers
NM_001025389.2
p.V311L
c.931G>C
7 papers
NM_001025389.2
p.V311L
c.931G>T
6 papers
NM_001025389.2
p.A320V
c.959C>T
6 papers
NM_001025389.2
p.M324T
c.971T>C
5 papers
NM_001025389.2
p.L582L
c.1744C>T
4 papers
NM_001025389.2
p.A152S
c.454G>T
4 papers
NM_001025389.2
p.R331C
c.991C>T
4 papers
NM_001025389.2
p.R402C
c.1204C>T
4 papers
NM_001025389.2
p.W450R
c.1348T>A
4 papers
NM_001025389.2
p.W450R
c.1348T>C
4 papers
NM_001025389.2
p.P585L
c.1754C>T
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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."