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

2 papers

NM_001977.4

p.K348_I349insFs

c.1044_1045insC

Surrounding Variants

1 paper

NM_001977.4

p.S382*

c.1145C>A

1 paper

NM_001977.4

p.S382*

c.1145C>G

1 paper

NM_001977.4

p.Q384*

c.1150C>T

1 paper

NM_001977.4

p.Q384P

c.1151A>C

1 paper

NM_001977.4

p.V387L

c.1159G>C

1 paper

NM_001977.4

p.V387L

c.1159G>T

1 paper

NM_001977.4

p.A388D

c.1163C>A

1 paper

NM_001977.4

p.T389fs

c.1165_1166fs

1 paper

NM_001977.4

p.T389delFs

c.1166delC

1 paper

NM_001977.4

p.E410Q

c.1228G>C

3 papers

NM_001977.4

p.W413*

c.1238G>A

3 papers

NM_001977.4

p.W413*

c.1239G>A