Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.L262H

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
3 papers
NM_000151.4
p.L262H
c.785T>A
Surrounding Variants
4 papers
NM_000151.4
p.K263delFs
c.788delA
1 paper
NM_000151.4
p.K263fs
c.787_788fs
1 paper
NM_000151.4
p.K263R
c.788A>G
2 papers
NM_000151.4
p.L265delFs
c.793delC
2 papers
NM_000151.4
p.S260N
c.779G>A
7 papers
NM_000151.4
p.N264K
c.792C>A
7 papers
NM_000151.4
p.N264K
c.792C>G
1 paper
NM_000151.4
p.L265V
c.793C>G
1 paper
NM_000151.4
p.L265fs
c.793_794fs
4 papers
NM_000151.4
p.L265P
c.794T>C
12 papers
NM_000151.4
p.G266V
c.797G>T
13 papers
NM_000151.4
p.P257L
c.770C>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."