Varaico: Literature-Extracted Genetic Variants

Gene:PGC
Variant:p.N170S

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.N170S
c.509A>G
Surrounding Variants
1 paper
NM_002630.4
p.A174V
c.521C>T
1 paper
NM_002630.4
p.E166insFs
c.497_498insG
1 paper
NM_002630.4
p.A174A
c.522G>T
1 paper
NM_002630.4
p.S163S
c.489T>C
2 papers
NM_002630.4
p.L162V
c.484T>G
4 papers
NM_002630.4
p.G161D
c.482G>A
1 paper
NM_002630.4
p.E159K
c.475G>A
1 paper
NM_002630.4
p.V150D
c.449T>A
1 paper
NM_002630.4
p.T194A
c.580A>G
1 paper
NM_002630.4
p.A204A
c.612C>T
1 paper
NM_002630.4
p.V212L
c.634G>C
1 paper
NM_002630.4
p.Y213H
c.637T>C
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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."