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.C78Y

c.233G>A

Surrounding Variants

1 paper

NM_001977.4

p.P79T

c.235C>A

1 paper

NM_001977.4

p.P71S

c.211C>T

1 paper

NM_001977.4

p.R92R

c.274C>A

1 paper

NM_001977.4

p.P94L

c.281C>T

1 paper

NM_001977.4

p.S62A

c.184T>G

1 paper

NM_001977.4

p.V97L

c.289G>C

1 paper

NM_001977.4

p.N98T

c.293A>C

1 paper

NM_001977.4

p.P55P

c.165A>G

2 papers

NM_001977.4

p.A54V

c.161C>T

1 paper

NM_001977.4

p.D103N

c.307G>A

1 paper

NM_001977.4

p.D103H

c.307G>C

1 paper

NM_001977.4

p.G52G

c.156C>A