Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.L225P

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.L225P
c.674T>C
Surrounding Variants
1 paper
NM_000151.4
p.L225R
c.674T>G
1 paper
NM_000151.4
p.Y224D
c.670T>G
2 papers
NM_000151.4
p.G222A
c.665G>C
2 papers
NM_000151.4
p.G222V
c.665G>T
21 papers
NM_000151.4
p.G222R
c.664G>A
20 papers
NM_000151.4
p.G222R
c.664G>C
1 paper
NM_000151.4
p.G229*
c.685G>T
1 paper
NM_000151.4
p.I221insFs
c.662dupT
1 paper
NM_000151.4
p.V232A
c.695T>C
54 papers
NM_000151.4
p.L216L
c.648G>T
1 paper
NM_000151.4
p.F215F
c.645C>T
12 papers
NM_000151.4
p.W236R
c.706T>A
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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."