Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.L27P

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.L27P
c.80T>C
Surrounding Variants
1 paper
NM_138387.4
p.W26C
c.78G>C
1 paper
NM_138387.4
p.L27delFs
c.79delC
1 paper
NM_138387.4
p.L32R
c.95T>G
1 paper
NM_138387.4
p.L32_G33delFs
c.96_97delGG
1 paper
NM_138387.4
p.W21C
c.63G>T
2 papers
NM_138387.4
p.G33D
c.98G>A
1 paper
NM_138387.4
p.Q18_L19ins4
c.52_56ins12
1 paper
NM_138387.4
p.N17T
c.50A>C
1 paper
NM_138387.4
p.F39L
c.117T>A
1 paper
NM_138387.4
p.F43V
c.127T>G
13 papers
NM_138387.4
p.P44S
c.130C>T
6 papers
NM_138387.4
p.P44L
c.131C>T
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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."