Varaico: Literature-Extracted Genetic Variants

Gene:G6PC2
Variant:p.L233L

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
2 papers
NM_021176.3
p.L233L
c.699G>A
Surrounding Variants
2 papers
NM_021176.3
p.I230T
c.689T>C
1 paper
NM_021176.3
p.I230L
c.688A>C
1 paper
NM_021176.3
p.N245D
c.733A>G
2 papers
NM_021176.3
p.Y222H
c.664T>C
15 papers
NM_021176.3
p.V219L
c.655G>C
3 papers
NM_021176.3
p.H250Y
c.748C>T
2 papers
NM_021176.3
p.F215S
c.644T>C
1 paper
NM_021176.3
p.D252A
c.755A>C
1 paper
NM_021176.3
p.P255H
c.764C>A
1 paper
NM_021176.3
p.F256del1
c.766_767delTTT
4 papers
NM_021176.3
p.F256L
c.766T>C
4 papers
NM_021176.3
p.F256L
c.768T>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."