Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.R274H

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
1 paper
NM_138387.4
p.R274H
c.821G>A
Surrounding Variants
1 paper
NM_138387.4
p.R275G
c.823C>G
9 papers
NM_138387.4
p.Q277*
c.829C>T
1 paper
NM_138387.4
p.A285insFs
c.854_855insAA
1 paper
NM_138387.4
p.I263delFs
c.787delA
3 papers
NM_138387.4
p.G262R
c.784G>C
4 papers
NM_138387.4
p.G260D
c.779G>A
20 papers
NM_138387.4
p.G260R
c.778G>C
4 papers
NM_138387.4
p.A257fs
c.769_770fs
2 papers
NM_138387.4
p.A257fs
c.769_770fs
3 papers
NM_138387.4
p.G256del1
c.766_768delGGG
1 paper
NM_138387.4
p.G256_L259del0
c.766_777del12
7 papers
NM_138387.4
p.S255_G256delFs
c.765_766delAG
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