Varaico: Literature-Extracted Genetic Variants

Gene:AMZ2
Variant:p.E39G

AMZ2

29 papers

RefSeq Summary

The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by ...

Pfam Domains

Peptidase_M54aa 228–298UCSCPeptidase family M54
Peptidase_M54aa 228–298UCSCPeptidase family M54

Gene Aliases

HGNC Name

archaelysin family metallopeptidase 2

HGNC Alias Name

archaemetzincin-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016627.5
p.E39G
c.116A>G
Surrounding Variants
1 paper
NM_016627.5
p.Q42L
c.125A>T
1 paper
NM_016627.5
p.F48_G49del1
c.143_145delTTG
2 papers
NM_016627.5
p.N30D
c.88A>G
1 paper
NM_016627.5
p.G49G
c.147A>G
1 paper
NM_016627.5
p.Y26*
c.78T>A
1 paper
NM_016627.5
p.Y26*
c.78T>G
1 paper
NM_016627.5
p.S55P
c.163T>C
1 paper
NM_016627.5
p.V23I
c.67G>A
1 paper
NM_016627.5
p.W59*
c.176G>A
1 paper
NM_016627.5
p.N19D
c.55A>G
1 paper
NM_016627.5
p.W59*
c.177G>A
1 paper
NM_016627.5
p.T61S
c.182C>G
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