Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.D113H

AOPEP

411 papers

RefSeq Summary

This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a prote...

Pfam Domains

Peptidase_M1aa 423–651UCSCPeptidase family M1 domain
Leuk-A4-hydro_Caa 706–818UCSCLeukotriene A4 hydrolase, C-terminal

Gene Aliases

HGNC Name

aminopeptidase O (putative)

HGNC Previous Symbol

C9orf3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001193329.3
p.D113H
c.337G>C
Surrounding Variants
1 paper
NM_001193329.3
p.H116L
c.347A>T
1 paper
NM_001193329.3
p.D108insFs
c.323_324ins10
1 paper
NM_001193329.3
p.D108A
c.323A>C
1 paper
NM_001193329.3
p.E106A
c.317A>C
3 papers
NM_001193329.3
p.S103N
c.308G>A
1 paper
NM_001193329.3
p.S123A
c.367T>G
1 paper
NM_001193329.3
p.I101delFs
c.301delA
1 paper
NM_001193329.3
p.F99F
c.297T>C
1 paper
NM_001193329.3
p.S127R
c.379A>C
1 paper
NM_001193329.3
p.S127R
c.381C>A
1 paper
NM_001193329.3
p.S127R
c.381C>G
1 paper
NM_001193329.3
p.E93K
c.277G>A
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