Varaico: Literature-Extracted Genetic Variants

Gene:PGC
Variant:p.E31E

PGC

358 papers

RefSeq Summary

This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gas...

Pfam Domains

A1_Propeptideaa 20–46UCSCA1 Propeptide
Aspaa 72–387UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

progastricsin

HGNC Previous Name

progastricsin (pepsinogen C)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002630.4
p.E31E
c.93G>A
Surrounding Variants
1 paper
NM_002630.4
p.M33R
c.98T>G
1 paper
NM_002630.4
p.G37C
c.109G>T
1 paper
NM_002630.4
p.L38M
c.112T>A
1 paper
NM_002630.4
p.L38S
c.113T>C
2 papers
NM_002630.4
p.K25E
c.73A>G
1 paper
NM_002630.4
p.R44K
c.131G>A
1 paper
NM_002630.4
p.H46R
c.137A>G
1 paper
NM_002630.4
p.K53R
c.158A>G
2 papers
NM_002630.4
p.Y54F
c.161A>T
1 paper
NM_002630.4
p.Y54S
c.161A>C
1 paper
NM_002630.4
p.F56delFs
c.167delA
1 paper
NM_002630.4
p.F56_T62ins2
c.168_185dup18
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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."