Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.S278C

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.S278C
c.832A>T
Surrounding Variants
1 paper
NM_000151.4
p.Y280insFs
c.838dupT
5 papers
NM_000151.4
p.A274V
c.821C>T
2 papers
NM_000151.4
p.A274T
c.820G>A
2 papers
NM_000151.4
p.S283S
c.849C>T
1 paper
NM_000151.4
p.C284S
c.850T>A
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.L271_G272insFs
c.813_814insC
1 paper
NM_000151.4
p.K285insFs
c.854_855insAA
6 papers
NM_000151.4
p.L271_G272insFs
c.813_814insG
1 paper
NM_000151.4
p.K285fs
c.853_854fs
1 paper
NM_000151.4
p.G286delFs
c.858delG
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