Varaico: Literature-Extracted Genetic Variants

Gene:PGC
Variant:p.V284E

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
1 paper
NM_002630.4
p.V284E
c.851T>A
Surrounding Variants
1 paper
NM_002630.4
p.E269Q
c.805G>C
1 paper
NM_002630.4
p.D301N
c.901G>A
1 paper
NM_002630.4
p.D301E
c.903T>G
1 paper
NM_002630.4
p.D301E
c.903T>A
2 papers
NM_002630.4
p.E302K
c.904G>A
1 paper
NM_002630.4
p.G304E
c.911G>A
1 paper
NM_002630.4
p.A263G
c.788C>G
1 paper
NM_002630.4
p.E247K
c.739G>A
1 paper
NM_002630.4
p.W241C
c.723G>C
1 paper
NM_002630.4
p.I239F
c.715A>T
1 paper
NM_002630.4
p.Q238insFs
c.713dupA
1 paper
NM_002630.4
p.Q238*
c.712C>T
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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."