Varaico: Literature-Extracted Genetic Variants

Gene:AMPD3
Variant:p.G142_I143Splc

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.G142_I143Splc
c.426+1G>C
Surrounding Variants
1 paper
NM_001025389.2
p.P128A
c.382C>G
1 paper
NM_001025389.2
p.T121R
c.362C>G
1 paper
NM_001025389.2
p.T121S
c.361A>T
1 paper
NM_001025389.2
p.S118F
c.353C>T
1 paper
NM_001025389.2
p.T114S
c.341C>G
1 paper
NM_001025389.2
p.T114S
c.340A>T
1 paper
NM_001025389.2
p.T109A
c.325A>G
1 paper
NM_001025389.2
p.G98A
c.293G>C
1 paper
NM_001025389.2
p.G98fs
c.292_293fs
1 paper
NM_001025389.2
p.P92S
c.274C>T
1 paper
NM_001025389.2
p.M90L
c.268A>C
1 paper
NM_001025389.2
p.M90L
c.268A>T
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