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

1–12 of 185 variants

4 papers

NM_001977.4

p.Q213R

c.638A>G

4 papers

NM_001977.4

p.V218A

c.653T>C

3 papers

NM_001977.4

p.W413*

c.1238G>A

3 papers

NM_001977.4

p.W413*

c.1239G>A

3 papers

NM_001977.4

p.V549A

c.1646T>C

2 papers

NM_001977.4

p.A36A

c.108C>G

2 papers

NM_001977.4

p.A54V

c.161C>T

2 papers

NM_001977.4

p.E172K

c.514G>A

2 papers

NM_001977.4

p.H292insFs

c.874_875insG

2 papers

NM_001977.4

p.K305R

c.914A>G

2 papers

NM_001977.4

p.K348_I349insFs

c.1044_1045insC

2 papers

NM_001977.4

p.E431A

c.1292A>C