Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.R378H

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.R378H
c.1133G>A
Surrounding Variants
1 paper
NM_001368809.2
p.R378P
c.1133G>C
1 paper
NM_001368809.2
p.R378C
c.1132C>T
1 paper
NM_001368809.2
p.L377L
c.1129C>T
1 paper
NM_001368809.2
p.H375D
c.1123C>G
3 papers
NM_001308170.1
p.C349*
c.1047C>A
NM_001368809.2
p.C370*
c.1110C>A
2 papers
NM_001368809.2
p.C370delFs
c.1110delC
1 paper
NM_001368809.2
p.Q400*
c.1198C>T
2 papers
NM_001368809.2
p.S408R
c.1222A>C
2 papers
NM_001368809.2
p.S408R
c.1224C>A
2 papers
NM_001368809.2
p.S408R
c.1224C>G
1 paper
NM_001368809.2
p.A413delFs
c.1239delC
3 papers
NM_001257361.2
p.A349A
c.1047C>A
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