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

1 paper

NM_001150.3

p.K9R

c.26A>G

Surrounding Variants

1 paper

NM_001150.3

p.K9E

c.25A>G

1 paper

NM_001150.3

p.K9Q

c.25A>C

1 paper

NM_001150.3

p.L11P

c.32T>C

2 papers

NM_001150.3

p.G12S

c.34G>A

2 papers

NM_001150.3

p.G12V

c.35G>T

1 paper

NM_001150.3

p.G12A

c.35G>C

2 papers

NM_001150.3

p.G12D

c.35G>A

1 paper

NM_001150.3

p.Y6F

c.17A>T

1 paper

NM_001150.3

p.F5V

c.13T>G

1 paper

NM_001150.3

p.G4R

c.10G>C

1 paper

NM_001150.3

p.G15R

c.43G>A

1 paper

NM_001150.3

p.K3*

c.7A>T