Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.S289N

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.S289N
c.866G>A
Surrounding Variants
1 paper
NM_000151.4
p.P293S
c.877C>T
1 paper
NM_000151.4
p.K285_G286insFs
c.855_856insAA
1 paper
NM_000151.4
p.G286delFs
c.858delG
1 paper
NM_000151.4
p.K285fs
c.853_854fs
1 paper
NM_000151.4
p.K285insFs
c.854_855insAA
1 paper
NM_000151.4
p.F294L
c.880T>C
1 paper
NM_000151.4
p.C284Y
c.851G>A
1 paper
NM_000151.4
p.C284S
c.851G>C
1 paper
NM_000151.4
p.F294L
c.882C>A
1 paper
NM_000151.4
p.F294L
c.882C>G
1 paper
NM_000151.4
p.C284S
c.850T>A
2 papers
NM_000151.4
p.R295S
c.883C>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."