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.M190K

c.569T>A

Surrounding Variants

1 paper

NM_001977.4

p.L188V

c.562C>G

1 paper

NM_001977.4

p.D183E

c.549T>A

1 paper

NM_001977.4

p.D183E

c.549T>G

1 paper

NM_001977.4

p.D183N

c.547G>A

1 paper

NM_001977.4

p.L200I

c.598C>A

1 paper

NM_001977.4

p.V201M

c.601G>A

1 paper

NM_001977.4

p.E175A

c.524A>C

2 papers

NM_001977.4

p.E172K

c.514G>A

1 paper

NM_001977.4

p.V169M

c.505G>A

4 papers

NM_001977.4

p.Q213R

c.638A>G

1 paper

NM_001977.4

p.V214I

c.640G>A

1 paper

NM_001977.4

p.K165K

c.495G>A