Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.I229L

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.I229L
c.685A>C
Surrounding Variants
1 paper
NM_001193329.3
p.I229L
c.685A>T
1 paper
NM_001193329.3
p.L227_Q228del1
c.681_683delGCA
1 paper
NM_001193329.3
p.K231R
c.692A>G
5 papers
NM_001193329.3
p.T232_G233delFs
c.696_697delAG
1 paper
NM_001193329.3
p.W225_S226Fs
c.675_676delinsGFs
1 paper
NM_001193329.3
p.T232T
c.696A>G
1 paper
NM_001193329.3
p.G233R
c.697G>A
1 paper
NM_001193329.3
p.G233R
c.697G>C
17 papers
NM_001193329.3
p.T224A
c.670A>G
4 papers
NM_001193329.3
p.A234fs
c.700_701fs
1 paper
NM_001193329.3
p.A234V
c.701C>T
5 papers
NM_001193329.3
p.Q235*
c.703C>T
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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."