Varaico: Literature-Extracted Genetic Variants

ANPEP

460 papers

RefSeq Summary

Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of p...

Pfam Domains

Peptidase_M1_Naa 81–279UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 316–543UCSCPeptidase family M1 domain

ERAP1_Caa 619–946UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

alanyl aminopeptidase, membrane

HGNC Previous Symbols

CD13; PEPN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001150.3

p.D118V

c.353A>T

Surrounding Variants

1 paper

NM_001150.3

p.F111I

c.331T>A

1 paper

NM_001150.3

p.T108N

c.323C>A

1 paper

NM_001150.3

p.T130I

c.389C>T

1 paper

NM_001150.3

p.S132T

c.395G>C

2 papers

NM_001150.3

p.Q133R

c.398A>G

1 paper

NM_001150.3

p.R136W

c.406A>T

1 paper

NM_001150.3

p.R136K

c.407G>A

1 paper

NM_001150.3

p.L100L

c.298C>T

1 paper

NM_001150.3

p.R140C

c.418C>T

2 papers

NM_001150.3

p.R140G

c.418C>G

1 paper

NM_001150.3

p.N96I

c.287A>T

1 paper

NM_001150.3

p.G141C

c.421G>T