Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.V232A

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.V232A
c.695T>C
Surrounding Variants
1 paper
NM_000151.4
p.G229*
c.685G>T
12 papers
NM_000151.4
p.W236R
c.706T>A
12 papers
NM_000151.4
p.W236R
c.706T>C
1 paper
NM_000151.4
p.W236G
c.706T>G
1 paper
NM_000151.4
p.T237T
c.711T>C
1 paper
NM_000151.4
p.L238fs
c.712_713fs
2 papers
NM_000151.4
p.L238delFs
c.714delG
3 papers
NM_000151.4
p.L225P
c.674T>C
1 paper
NM_000151.4
p.L225R
c.674T>G
2 papers
NM_000151.4
p.K240R
c.719A>G
1 paper
NM_000151.4
p.Y224D
c.670T>G
4 papers
NM_000151.4
p.A241T
c.721G>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."