Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.R283*

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
10 papers
NM_021176.3
p.R283*
c.847C>T
Surrounding Variants
1 paper
NM_021176.3
p.C282Y
c.845G>A
1 paper
NM_021176.3
p.S281N
c.842G>A
2 papers
NM_021176.3
p.I273V
c.817A>G
2 papers
NM_021176.3
p.R293W
c.877C>T
1 paper
NM_021176.3
p.G270V
c.809G>T
2 papers
NM_021176.3
p.L301S
c.902T>C
2 papers
NM_021176.3
p.L263H
c.788T>A
1 paper
NM_021176.3
p.H308D
c.922C>G
4 papers
NM_021176.3
p.F256L
c.768T>A
4 papers
NM_021176.3
p.F256L
c.768T>G
1 paper
NM_021176.3
p.L310F
c.928C>T
4 papers
NM_021176.3
p.F256L
c.766T>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."