Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.D498fs

AMPD2

84 papers

RefSeq Summary

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several...

Pfam Domains

AMP_deaminaseaa 163–806UCSCAMP deaminase

Gene Aliases

HGNC Name

adenosine monophosphate deaminase 2

HGNC Alias Symbol

SPG63

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001368809.2
p.D498fs
c.1492_1493fs
Surrounding Variants
1 paper
NM_001368809.2
p.D498delFs
c.1492delG
2 papers
NM_001368809.2
p.E496K
c.1486G>A
1 paper
NM_001308170.1
p.E475_L479insFs
c.1424_1436dup13
2 papers
NM_001368809.2
p.A501V
c.1502C>T
1 paper
NM_139156.4
p.R475_M479insFs
c.1424_1436dup13
1 paper
NM_001368809.2
p.A504S
c.1510G>T
2 papers
NM_001368809.2
p.G491R
c.1471G>A
1 paper
NM_001368809.2
p.G491R
c.1471G>C
1 paper
NM_001368809.2
p.M506_N513del0
c.1517_1537del21
3 papers
NM_001368809.2
p.R486Q
c.1457G>A
2 papers
NM_001368809.2
p.R486W
c.1456C>T
1 paper
NM_001368809.2
p.E484K
c.1450G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."