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.A24T

c.70G>A

Surrounding Variants

1 paper

NM_001977.4

p.C23C

c.69T>C

1 paper

NM_001977.4

p.V25_V26insA

c.73_77ins3

1 paper

NM_001977.4

p.L22F

c.64C>T

1 paper

NM_001977.4

p.A20T

c.58G>A

1 paper

NM_001977.4

p.C13F

c.38G>T

1 paper

NM_001977.4

p.R11S

c.33A>C

1 paper

NM_001977.4

p.R11R

c.33A>G

1 paper

NM_001977.4

p.R11S

c.33A>T

2 papers

NM_001977.4

p.A36A

c.108C>G

1 paper

NM_001977.4

p.R11K

c.32G>A

1 paper

NM_001977.4

p.V37M

c.109G>A

1 paper

NM_001977.4

p.V37A

c.110T>C