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

4 papers

NM_001150.3

p.I603M

c.1809A>G

Surrounding Variants

1 paper

NM_001150.3

p.I603K

c.1808T>A

2 papers

NM_001150.3

p.G594D

c.1781G>A

1 paper

NM_001150.3

p.R592K

c.1775G>A

3 papers

NM_001150.3

p.F580Y

c.1739T>A

1 paper

NM_001150.3

p.S578A

c.1732T>G

1 paper

NM_001150.3

p.H565Q

c.1695C>G

1 paper

NM_001150.3

p.H565Q

c.1695C>A

1 paper

NM_001150.3

p.F549S

c.1646T>C

1 paper

NM_001150.3

p.L545M

c.1633C>A

1 paper

NM_001150.3

p.D538N

c.1612G>A

1 paper

NM_001150.3

p.R537Q

c.1610G>A

1 paper

NM_001150.3

p.V536L

c.1606G>T