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.P91delFs

c.272delG

Surrounding Variants

1 paper

NM_001150.3

p.P91fs

c.271_272fs

1 paper

NM_001150.3

p.Y92C

c.275A>G

1 paper

NM_001150.3

p.R90S

c.270A>T

1 paper

NM_001150.3

p.R90S

c.270A>C

1 paper

NM_001150.3

p.R90K

c.269G>A

1 paper

NM_001150.3

p.T88M

c.263C>T

1 paper

NM_001150.3

p.P95H

c.284C>A

1 paper

NM_001150.3

p.N96I

c.287A>T

3 papers

NM_001150.3

p.R86Q

c.257G>A

1 paper

NM_001150.3

p.L100L

c.298C>T

2 papers

NM_001150.3

p.D83N

c.247G>A

1 paper

NM_001150.3

p.P82A

c.244C>G