Varaico: Literature-Extracted Genetic Variants

Gene:AOPEP
Variant:p.M291I

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.M291I
c.873G>A
Surrounding Variants
2 papers
NM_001193329.3
p.M291fs
c.871_872fs
1 paper
NM_001193329.3
p.S292L
c.875C>T
3 papers
NM_001193329.3
p.M291insFs
c.871dupA
1 paper
NM_001193329.3
p.W294C
c.882G>T
1 paper
NM_001193329.3
p.R299*
c.895C>T
9 papers
NM_001193329.3
p.F282L
c.844T>C
4 papers
NM_001193329.3
p.L307S
c.920T>C
1 paper
NM_001193329.3
p.V272A
c.815T>C
1 paper
NM_001193329.3
p.V272M
c.814G>A
1 paper
NM_001193329.3
p.V272fs
c.814_815fs
1 paper
NM_001193329.3
p.T271delFs
c.813delT
1 paper
NM_001193329.3
p.Y270C
c.809A>G
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