Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.L294_G301insFs

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
2 papers
NM_138387.4
p.L294_G301insFs
c.882_903dup22
Surrounding Variants
1 paper
NM_138387.4
p.L297delFs
c.889delC
1 paper
NM_138387.4
p.L297fs
c.889_890fs
1 paper
NM_138387.4
p.H302fs
c.904_905fs
2 papers
NM_138387.4
p.P304insFs
c.911dupC
1 paper
NM_138387.4
p.A285insFs
c.854_855insAA
2 papers
NM_138387.4
p.Q305fs
c.913_914fs
1 paper
NM_138387.4
p.Q305E
c.913C>G
1 paper
NM_138387.4
p.F309C
c.926T>G
1 paper
NM_138387.4
p.Y310F
c.929A>T
7 papers
NM_138387.4
p.F312insFs
c.935dupT
9 papers
NM_138387.4
p.Q277*
c.829C>T
8 papers
NM_138387.4
p.N313fs
c.937_938fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."