Varaico: Literature-Extracted Genetic Variants

Gene:PGPEP1

PGPEP1

8 papers

RefSeq Summary

The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin...

Pfam Domains

Peptidase_C15aa 6–186UCSCPyroglutamyl peptidase

Gene Aliases

HGNC Name

pyroglutamyl-peptidase I

HGNC Alias Symbols

PGP-I; PGPI

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_017712.4
p.G12fs
c.34_35fs
1 paper
NM_017712.4
p.T53K
c.158C>A
1 paper
NM_017712.4
p.K64N
c.192G>C
1 paper
NM_017712.4
p.K64N
c.192G>T
1 paper
NM_017712.4
p.R100C
c.298C>T
1 paper
NM_017712.4
p.H168Q
c.504C>A
1 paper
NM_017712.4
p.H168Q
c.504C>G
1 paper
NM_017712.4
p.R183K
c.548G>A
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