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.E416D

c.1248A>C

Surrounding Variants

1 paper

NM_001977.4

p.E416D

c.1248A>T

1 paper

NM_001977.4

p.E416Q

c.1246G>C

3 papers

NM_001977.4

p.W413*

c.1239G>A

3 papers

NM_001977.4

p.W413*

c.1238G>A

1 paper

NM_001977.4

p.S420_F421insTG

c.1258_1262ins6

1 paper

NM_001977.4

p.F424_L425del2

c.1270_1274del6

1 paper

NM_001977.4

p.E410Q

c.1228G>C

1 paper

NM_001977.4

p.H429_A430insT

c.1285_1289ins3

2 papers

NM_001977.4

p.E431A

c.1292A>C

1 paper

NM_001977.4

p.E431D

c.1293A>C

1 paper

NM_001977.4

p.E431D

c.1293A>T

1 paper

NM_001977.4

p.Q435R

c.1304A>G