Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.E140D

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.E140D
c.420G>T
Surrounding Variants
1 paper
NM_001193329.3
p.E140D
c.420G>C
1 paper
NM_001193329.3
p.G138E
c.413G>A
1 paper
NM_001193329.3
p.L143L
c.427T>C
1 paper
NM_001193329.3
p.L144R
c.431T>G
1 paper
NM_001193329.3
p.T134A
c.400A>G
1 paper
NM_001193329.3
p.T134S
c.400A>T
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.S127R
c.379A>C
1 paper
NM_001193329.3
p.S123A
c.367T>G
1 paper
NM_001193329.3
p.V161delFs
c.483delT
1 paper
NM_001193329.3
p.V164E
c.491T>A
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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."