Varaico: Literature-Extracted Genetic Variants

Gene:AMZ2
Variant:p.Y114H

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.Y114H
c.340T>C
Surrounding Variants
1 paper
NM_016627.5
p.T112delFs
c.335_336delCG
1 paper
NM_016627.5
p.L122S
c.365T>C
1 paper
NM_016627.5
p.L122F
c.366G>C
1 paper
NM_016627.5
p.L122F
c.366G>T
1 paper
NM_016627.5
p.I103I
c.309C>T
1 paper
NM_016627.5
p.L126_L127delFs
c.378_379delCC
1 paper
NM_016627.5
p.L127delFs
c.381delA
1 paper
NM_016627.5
p.N142S
c.425A>G
1 paper
NM_016627.5
p.E143_T145del3
c.427_434del9
1 paper
NM_016627.5
p.G153W
c.457G>T
1 paper
NM_016627.5
p.G153Splc
c.458-8T>A
2 papers
NM_016627.5
p.T174A
c.520A>G
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