Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.M116I

G6PC3

170 papers

RefSeq Summary

This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosph...

Pfam Domains

PAP2aa 1–80UCSCPAP2 superfamily
PAP2aa 53–195UCSCPAP2 superfamily

Gene Aliases

HGNC Name

glucose-6-phosphatase catalytic subunit 3

HGNC Alias Symbol

UGRP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_138387.4
p.M116I
c.348G>T
Surrounding Variants
5 papers
NM_138387.4
p.M116I
c.348G>A
5 papers
NM_138387.4
p.M116I
c.348G>C
7 papers
NM_138387.4
p.M116K
c.347T>A
5 papers
NM_138387.4
p.M116T
c.347T>C
1 paper
NM_138387.4
p.M116L
c.346A>C
7 papers
NM_138387.4
p.M116V
c.346A>G
4 papers
NM_138387.4
p.T118R
c.353C>G
1 paper
NM_138387.4
p.T118I
c.353C>T
1 paper
NM_138387.4
p.H114R
c.341A>G
1 paper
NM_138387.4
p.G113E
c.338G>A
2 papers
NM_138387.4
p.G113R
c.337G>A
2 papers
NM_138387.4
p.G113R
c.337G>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."