Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.I70delFs

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
8 papers
NM_138387.4
p.I70delFs
c.210delC
Surrounding Variants
1 paper
NM_138387.4
p.I70insFs
c.208_209insC
2 papers
NM_138387.4
p.I70fs
c.208_209fs
2 papers
NM_138387.4
p.F71fs
c.211_212fs
4 papers
NM_138387.4
p.F71fs
c.211_212fs
4 papers
NM_138387.4
p.L69insFs
c.207dupC
1 paper
NM_138387.4
p.L69delFs
c.207delC
3 papers
NM_138387.4
p.K72delFs
c.215delA
2 papers
NM_138387.4
p.K72fs
c.214_215fs
1 paper
NM_138387.4
p.K72fs
c.214_215fs
4 papers
NM_138387.4
p.W73*
c.218G>A
8 papers
NM_138387.4
p.W73Splc
c.218+1G>A
3 papers
NM_138387.4
p.E65A
c.194A>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."