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.M535I

c.1605G>A

Surrounding Variants

1 paper

NM_001977.4

p.M535I

c.1605G>C

1 paper

NM_001977.4

p.M535I

c.1605G>T

1 paper

NM_001977.4

p.W538C

c.1614G>C

1 paper

NM_001977.4

p.W538C

c.1614G>T

1 paper

NM_001977.4

p.A526P

c.1576G>C

1 paper

NM_001977.4

p.V549M

c.1645G>A

3 papers

NM_001977.4

p.V549A

c.1646T>C

2 papers

NM_001977.4

p.N554D

c.1660A>G

1 paper

NM_001977.4

p.K558R

c.1673A>G

1 paper

NM_001977.4

p.A521E

c.1562C>A

1 paper

NM_001977.4

p.K508N

c.1524A>C

1 paper

NM_001977.4

p.K508N

c.1524A>T