Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.G270R

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
5 papers
NM_000151.4
p.G270R
c.808G>C
Surrounding Variants
27 papers
NM_000151.4
p.G270V
c.809G>T
6 papers
NM_000151.4
p.L271_G272insFs
c.813_814insG
1 paper
NM_000151.4
p.L271_G272insFs
c.813_814insC
1 paper
NM_000151.4
p.T267M
c.800C>T
12 papers
NM_000151.4
p.G266V
c.797G>T
2 papers
NM_000151.4
p.A274T
c.820G>A
5 papers
NM_000151.4
p.A274V
c.821C>T
4 papers
NM_000151.4
p.L265P
c.794T>C
1 paper
NM_000151.4
p.L265V
c.793C>G
1 paper
NM_000151.4
p.L265fs
c.793_794fs
7 papers
NM_000151.4
p.N264K
c.792C>A
7 papers
NM_000151.4
p.N264K
c.792C>G
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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."