Varaico: Literature-Extracted Genetic Variants

Gene:AMPD3
Variant:p.Y148*

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.Y148*
c.444T>A
Surrounding Variants
1 paper
NM_001025389.2
p.Y148*
c.444T>G
4 papers
NM_001025389.2
p.A152S
c.454G>T
1 paper
NM_001025389.2
p.R172C
c.514C>T
1 paper
NM_001025389.2
p.R185P
c.554G>C
2 papers
NM_001025389.2
p.P200delFs
c.600delT
1 paper
NM_001025389.2
p.P249A
c.745C>G
1 paper
NM_001025389.2
p.Y254H
c.760T>C
1 paper
NM_001025389.2
p.Y254F
c.761A>T
1 paper
NM_001025389.2
p.G142_I143Splc
c.426+1G>C
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
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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."