Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.V53G

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.V53G
c.158T>G
Surrounding Variants
5 papers
NM_138387.4
p.Y48*
c.144C>A
5 papers
NM_138387.4
p.Y48*
c.144C>G
6 papers
NM_138387.4
p.Y47*
c.141C>A
7 papers
NM_138387.4
p.Y47*
c.141C>G
7 papers
NM_138387.4
p.W59R
c.175T>A
7 papers
NM_138387.4
p.W59R
c.175T>C
1 paper
NM_138387.4
p.I60L
c.178A>C
1 paper
NM_138387.4
p.A46P
c.136G>C
1 paper
NM_138387.4
p.A45E
c.134C>A
2 papers
NM_138387.4
p.T64_I70del0
c.190_210del21
1 paper
NM_138387.4
p.A45S
c.133G>T
1 paper
NM_138387.4
p.S61_L62delins
c.183_184delinsCT
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