Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.K350N

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.K350N
c.1050G>T
Surrounding Variants
1 paper
NM_001193329.3
p.K350N
c.1050G>C
2 papers
NM_001193329.3
p.T347S
c.1039A>T
1 paper
NM_001193329.3
p.D358delFs
c.1074delT
1 paper
NM_001193329.3
p.S366A
c.1096T>G
1 paper
NM_001193329.3
p.P367T
c.1099C>A
1 paper
NM_001193329.3
p.P367H
c.1100C>A
3 papers
NM_001193329.3
p.P367L
c.1100C>T
1 paper
NM_001193329.3
p.T331A
c.991A>G
1 paper
NM_001193329.3
p.Y328C
c.983A>G
1 paper
NM_001193329.3
p.C323_S324ins10
c.967_971ins30
7 papers
NM_001193329.3
p.V377V
c.1131T>C
1 paper
NM_001193329.3
p.M381I
c.1143G>C
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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."