Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.W70fs

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.W70fs
c.208_209fs
Surrounding Variants
1 paper
NM_000151.4
p.W70insFs
c.208_209insC
1 paper
NM_000151.4
p.W70delFs
c.208delT
12 papers
NM_000151.4
p.W70*
c.209G>A
1 paper
NM_000151.4
p.D69A
c.206A>C
10 papers
NM_000151.4
p.W70*
c.210G>A
1 paper
NM_000151.4
p.D69N
c.205G>A
1 paper
NM_000151.4
p.G68V
c.203G>T
18 papers
NM_000151.4
p.G68R
c.202G>A
16 papers
NM_000151.4
p.G68R
c.202G>C
1 paper
NM_000151.4
p.V74I
c.220G>A
2 papers
NM_000151.4
p.A65P
c.193G>C
4 papers
NM_000151.4
p.V64V
c.192A>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."