Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.G114delFs

G6PC1

382 papers

RefSeq Summary

Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and gluc...

Pfam Domains

PAP2aa 57–204UCSCPAP2 superfamily

Gene Aliases

HGNC Name

glucose-6-phosphatase catalytic subunit 1

HGNC Previous Symbol

G6PT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000151.4
p.G114delFs
c.340delG
Surrounding Variants
9 papers
NM_000151.4
p.P113L
c.338C>T
1 paper
NM_000151.4
p.G114Splc
c.340+1G>A
1 paper
NM_000151.4
p.G114Splc
c.340+1G>T
4 papers
NM_000151.4
p.T111I
c.332C>T
1 paper
NM_000151.4
p.E110A
c.329A>C
1 paper
NM_000151.4
p.G114Splc
c.340+10C>A
17 papers
NM_000151.4
p.E110K
c.328G>A
14 papers
NM_000151.4
p.E110Q
c.328G>C
6 papers
NM_000151.4
p.C109Y
c.326G>A
2 papers
NM_000151.4
p.C109R
c.325T>C
12 papers
NM_000151.4
p.T108I
c.323C>T
1 paper
NM_000151.4
p.T108P
c.322A>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."