Varaico: Literature-Extracted Genetic Variants

Gene:AMPD3
Variant:p.P585L

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
4 papers
NM_001025389.2
p.P585L
c.1754C>T
Surrounding Variants
5 papers
NM_001025389.2
p.L582L
c.1744C>T
1 paper
NM_001025389.2
p.H595Y
c.1783C>T
1 paper
NM_001025389.2
p.R573H
c.1718G>A
10 papers
NM_001025389.2
p.R573C
c.1717C>T
1 paper
NM_001025389.2
p.S638R
c.1912A>C
1 paper
NM_001025389.2
p.S638R
c.1914T>A
1 paper
NM_001025389.2
p.S638R
c.1914T>G
1 paper
NM_001025389.2
p.K654E
c.1960A>G
1 paper
NM_001025389.2
p.P542L
c.1625C>T
1 paper
NM_001025389.2
p.D663D
c.1989T>C
1 paper
NM_001025389.2
p.H532Q
c.1596C>A
1 paper
NM_001025389.2
p.H532Q
c.1596C>G
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