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.S34F

c.101C>T

Surrounding Variants

1 paper

NM_001150.3

p.S34T

c.100T>A

1 paper

NM_001150.3

p.Q35fs

c.103_104fs

2 papers

NM_001150.3

p.V31V

c.93G>A

1 paper

NM_001150.3

p.K37del1

c.109_110delCTT

2 papers

NM_001150.3

p.S43N

c.128G>A

7 papers

NM_001150.3

p.C24Y

c.71G>A

1 paper

NM_001150.3

p.T50P

c.148A>C

1 paper

NM_001150.3

p.L17P

c.50T>C

1 paper

NM_001150.3

p.L17H

c.50T>A

1 paper

NM_001150.3

p.G15R

c.43G>A

1 paper

NM_001150.3

p.S54P

c.160T>C

2 papers

NM_001150.3

p.G12V

c.35G>T