Varaico: Literature-Extracted Genetic Variants

Gene:PGPEP1
Variant:p.G12fs

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
Selected Variant
1 paper
NM_017712.4
p.G12fs
c.34_35fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."