Varaico: Literature-Extracted Genetic Variants

Gene:AMPD3
Variant:p.R277Q

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
Selected Variant
1 paper
NM_001025389.2
p.R277Q
c.830G>A
Surrounding Variants
1 paper
NM_001025389.2
p.Y273C
c.818A>G
1 paper
NM_001025389.2
p.S283insFs
c.848_849ins7
1 paper
NM_001025389.2
p.K271R
c.812A>G
1 paper
NM_001025389.2
p.S286N
c.857G>A
1 paper
NM_001025389.2
p.H288Q
c.864T>A
1 paper
NM_001025389.2
p.H288Q
c.864T>G
3 papers
NM_001025389.2
p.N310K
c.930C>A
3 papers
NM_001025389.2
p.N310K
c.930C>G
7 papers
NM_001025389.2
p.V311L
c.931G>C
7 papers
NM_001025389.2
p.V311L
c.931G>T
1 paper
NM_001025389.2
p.Y254F
c.761A>T
1 paper
NM_001025389.2
p.Y254H
c.760T>C
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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."