Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.G487G

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.G487G
c.1461C>T
Surrounding Variants
1 paper
NM_001193329.3
p.G491_A492delFs
c.1473_1476del4
6 papers
NM_001193329.3
p.R493*
c.1477C>T
1 paper
NM_001193329.3
p.H479Q
c.1437T>G
1 paper
NM_001193329.3
p.R476H
c.1427G>A
1 paper
NM_001193329.3
p.W499_L500ins4
c.1495_1499ins12
1 paper
NM_001193329.3
p.G474R
c.1420G>A
1 paper
NM_001193329.3
p.G474R
c.1420G>C
1 paper
NM_001193329.3
p.E502E
c.1506A>G
1 paper
NM_001193329.3
p.F460L
c.1380C>A
1 paper
NM_001193329.3
p.F460L
c.1380C>G
1 paper
NM_001193329.3
p.F460L
c.1378T>C
14 papers
NM_001193329.3
p.M459I
c.1377G>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."