Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP

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
1–12 of 206 variants
17 papers
NM_001193329.3
p.T224A
c.670A>G
14 papers
NM_001193329.3
p.M459I
c.1377G>A
9 papers
NM_001193329.3
p.F282L
c.844T>C
7 papers
NM_001193329.3
p.V377V
c.1131T>C
7 papers
NM_001193329.3
p.E637*
c.1909G>T
6 papers
NM_001193329.3
p.R401W
c.1201C>T
6 papers
NM_001193329.3
p.R493*
c.1477C>T
5 papers
NM_001193329.3
p.T232_G233delFs
c.696_697delAG
5 papers
NM_001193329.3
p.Q235*
c.703C>T
5 papers
NM_001193329.3
p.R255*
c.763C>T
5 papers
NM_001193329.3
p.N389T
c.1166A>C
4 papers
NM_001193329.3
p.G41E
c.122G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."