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

1–12 of 261 variants

7 papers

NM_001150.3

p.C24Y

c.71G>A

7 papers

NM_001150.3

p.S752N

c.2255G>A

4 papers

NM_001150.3

p.I603M

c.1809A>G

3 papers

NM_001150.3

p.R73C

c.217C>T

3 papers

NM_001150.3

p.R86Q

c.257G>A

3 papers

NM_001150.3

p.A217S

c.649G>T

3 papers

NM_001150.3

p.A311V

c.932C>T

3 papers

NM_001150.3

p.F580Y

c.1739T>A

2 papers

NM_001150.3

p.G12S

c.34G>A

2 papers

NM_001150.3

p.G12V

c.35G>T

2 papers

NM_001150.3

p.G12D

c.35G>A

2 papers

NM_001150.3

p.V31V

c.93G>A