Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.M5V

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
2 papers
NM_000151.4
p.M5V
c.13A>G
Surrounding Variants
1 paper
NM_000151.4
p.M5L
c.13A>C
7 papers
NM_000151.4
p.M5R
c.14T>G
1 paper
NM_000151.4
p.G4R
c.10G>A
1 paper
NM_000151.4
p.N6N
c.18T>C
1 paper
NM_000151.4
p.N6_V7insFs
c.18_19ins4
1 paper
NM_000151.4
p.V7insFs
c.19_20ins4
1 paper
NM_000151.4
p.V7fs
c.19_20fs
1 paper
NM_000151.4
p.E2Fs
c.5delinsCAFs
1 paper
NM_000151.4
p.E2insFs
c.4_5insT
1 paper
NM_000151.4
p.M1I
c.3G>A
3 papers
NM_000151.4
p.L8P
c.23T>C
3 papers
NM_000151.4
p.M1V
c.1A>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."