Varaico: Literature-Extracted Genetic Variants

Gene:PGC
Variant:p.Q128R

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.Q128R
c.383A>G
Surrounding Variants
1 paper
NM_002630.4
p.S131F
c.392C>T
1 paper
NM_002630.4
p.S120L
c.359C>T
3 papers
NM_002630.4
p.P117A
c.349C>G
1 paper
NM_002630.4
p.T140T
c.420C>T
1 paper
NM_002630.4
p.T140T
c.420C>G
1 paper
NM_002630.4
p.N116H
c.346A>C
1 paper
NM_002630.4
p.H112D
c.334C>G
1 paper
NM_002630.4
p.T110I
c.329C>T
1 paper
NM_002630.4
p.V150D
c.449T>A
1 paper
NM_002630.4
p.E159K
c.475G>A
4 papers
NM_002630.4
p.G161D
c.482G>A
2 papers
NM_002630.4
p.L162V
c.484T>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."