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.D333E

c.999C>A

Surrounding Variants

1 paper

NM_001150.3

p.D333E

c.999C>G

1 paper

NM_001150.3

p.F327L

c.981C>G

1 paper

NM_001150.3

p.F327L

c.981C>A

1 paper

NM_001150.3

p.F327L

c.979T>C

1 paper

NM_001150.3

p.N326D

c.976A>G

1 paper

NM_001150.3

p.I324T

c.971T>C

1 paper

NM_001150.3

p.T321M

c.962C>T

1 paper

NM_001150.3

p.T321A

c.961A>G

1 paper

NM_001150.3

p.V320M

c.958G>A

1 paper

NM_001150.3

p.D315N

c.943G>A

1 paper

NM_001150.3

p.G312V

c.935G>T

3 papers

NM_001150.3

p.A311V

c.932C>T