Varaico: Literature-Extracted Genetic Variants

ENPEP

215 papers

RefSeq Summary

The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal asp...

Pfam Domains

Peptidase_M1_Naa 98–286UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 321–538UCSCPeptidase family M1 domain

ERAP1_Caa 616–934UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

glutamyl aminopeptidase

HGNC Alias Symbols

gp160; CD249

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001977.4

p.A241S

c.721G>T

Surrounding Variants

1 paper

NM_001977.4

p.P260A

c.778C>G

4 papers

NM_001977.4

p.V218A

c.653T>C

1 paper

NM_001977.4

p.E265Q

c.793G>C

1 paper

NM_001977.4

p.D268A

c.803A>C

1 paper

NM_001977.4

p.T274I

c.821C>T

1 paper

NM_001977.4

p.E277A

c.830A>C

1 paper

NM_001977.4

p.L286Q

c.857T>A

2 papers

NM_001977.4

p.H292insFs

c.874_875insG

1 paper

NM_001977.4

p.S296S

c.888T>C

1 paper

NM_001977.4

p.N302Y

c.904A>T

1 paper

NM_001977.4

p.N302K

c.906T>A

1 paper

NM_001977.4

p.N302K

c.906T>G