Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.L310F

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.L310F
c.928C>T
Surrounding Variants
1 paper
NM_021176.3
p.H308D
c.922C>G
2 papers
NM_021176.3
p.P313L
c.938C>T
1 paper
NM_021176.3
p.T314I
c.941C>T
2 papers
NM_021176.3
p.L301S
c.902T>C
1 paper
NM_021176.3
p.Y321insFs
c.961_962insG
2 papers
NM_021176.3
p.Y321*
c.963T>A
2 papers
NM_021176.3
p.Y321*
c.963T>G
14 papers
NM_021176.3
p.S324P
c.970T>C
2 papers
NM_021176.3
p.R293W
c.877C>T
1 paper
NM_021176.3
p.V336L
c.1006G>C
10 papers
NM_021176.3
p.R283*
c.847C>T
1 paper
NM_021176.3
p.C282Y
c.845G>A
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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."