Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.R147S

G6PC2

88 papers

RefSeq Summary

This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucos...

Pfam Domains

PAP2aa 53–198UCSCPAP2 superfamily

Gene Aliases

HGNC Name

glucose-6-phosphatase catalytic subunit 2

HGNC Alias Symbol

IGRP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021176.3
p.R147S
c.441A>T
Surrounding Variants
1 paper
NM_021176.3
p.R147S
c.441A>C
1 paper
NM_021176.3
p.D139H
c.415G>C
1 paper
NM_021176.3
p.M138I
c.414G>A
1 paper
NM_021176.3
p.M138I
c.414G>C
1 paper
NM_021176.3
p.M138I
c.414G>T
1 paper
NM_021176.3
p.G137E
c.410G>A
1 paper
NM_021176.3
p.T128I
c.383C>T
1 paper
NM_021176.3
p.M126L
c.376A>C
2 papers
NM_021176.3
p.M126V
c.376A>G
1 paper
NM_021176.3
p.M126L
c.376A>T
3 papers
NM_021176.3
p.Y124C
c.371A>G
1 paper
NM_021176.3
p.A119V
c.356C>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."