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.R143_L144insFs

c.429_430insT

Surrounding Variants

1 paper

NM_001977.4

p.L144fs

c.430_431fs

1 paper

NM_001977.4

p.R143Q

c.428G>A

1 paper

NM_001977.4

p.R143W

c.427C>T

1 paper

NM_001977.4

p.T142fs

c.424_425fs

1 paper

NM_001977.4

p.T142delFs

c.424_425delAC

1 paper

NM_001977.4

p.R140_I141insFs

c.420_421insTG

1 paper

NM_001977.4

p.T139fs

c.415_416fs

1 paper

NM_001977.4

p.E138D

c.414G>C

1 paper

NM_001977.4

p.E138D

c.414G>T

1 paper

NM_001977.4

p.T139delFs

c.415delA

1 paper

NM_001977.4

p.R137Q

c.410G>A

1 paper

NM_001977.4

p.R159M

c.476G>T