Varaico: Literature-Extracted Genetic Variants

Gene:PGC
Variant:p.Q238insFs

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.Q238insFs
c.713dupA
Surrounding Variants
1 paper
NM_002630.4
p.I239F
c.715A>T
1 paper
NM_002630.4
p.Q238*
c.712C>T
1 paper
NM_002630.4
p.W241C
c.723G>C
1 paper
NM_002630.4
p.D231N
c.691G>A
1 paper
NM_002630.4
p.E247K
c.739G>A
2 papers
NM_002630.4
p.G229D
c.686G>A
1 paper
NM_002630.4
p.G229C
c.685G>T
1 paper
NM_002630.4
p.A224V
c.671C>T
1 paper
NM_002630.4
p.Q217R
c.650A>G
1 paper
NM_002630.4
p.N216Splc
c.648-1G>A
1 paper
NM_002630.4
p.N216Splc
c.648-515C>G
1 paper
NM_002630.4
p.A263G
c.788C>G
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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."