Varaico: Literature-Extracted Genetic Variants

Gene:AMPD3
Variant:p.R419L

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.R419L
c.1256G>T
Surrounding Variants
4 papers
NM_001025389.2
p.R402C
c.1204C>T
1 paper
NM_000480.3
p.V433F
c.1297G>T
3 papers
NM_001025389.2
p.Q434*
c.1300C>T
4 papers
NM_001025389.2
p.W450R
c.1348T>A
4 papers
NM_001025389.2
p.W450R
c.1348T>C
1 paper
NM_001025389.2
p.P451insFs
c.1352_1353ins7
1 paper
NM_001025389.2
p.I470T
c.1409T>C
1 paper
NM_001025389.2
p.Y477Splc
c.1430+7G>A
1 paper
NM_001025389.2
p.D375Y
c.1123G>T
2 papers
NM_001025389.2
p.R356W
c.1066C>T
1 paper
NM_001025389.2
p.R343G
c.1027A>G
1 paper
NM_001025389.2
p.Y337*
c.1011C>A
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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."