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.E770K

c.2308G>A

Surrounding Variants

1 paper

NM_001150.3

p.E770*

c.2308G>T

1 paper

NM_001150.3

p.E769V

c.2306A>T

1 paper

NM_001150.3

p.C768S

c.2302T>A

1 paper

NM_001150.3

p.G764R

c.2290G>C

1 paper

NM_001150.3

p.G764R

c.2290G>A

2 papers

NM_001150.3

p.P787Q

c.2360C>A

7 papers

NM_001150.3

p.S752N

c.2255G>A

1 paper

NM_001150.3

p.P787Splc

c.2360+12C>G

1 paper

NM_001150.3

p.P787Splc

c.2360+44C>T

1 paper

NM_001150.3

p.P787L

c.2360C>T

2 papers

NM_001150.3

p.P787Q

c.2360C>A

1 paper

NM_001150.3

p.R793W

c.2377C>T