Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.S326P

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.S326P
c.976T>C
Surrounding Variants
11 papers
NM_000151.4
p.F327del1
c.979_980delTTC
2 papers
NM_000151.4
p.V324A
c.971T>C
1 paper
NM_000151.4
p.C328R
c.982T>C
2 papers
NM_000151.4
p.Y323*
c.969C>A
2 papers
NM_000151.4
p.Y323*
c.969C>G
1 paper
NM_000151.4
p.K329E
c.985A>G
2 papers
NM_000151.4
p.K329M
c.986A>T
6 papers
NM_000151.4
p.F322L
c.966C>A
6 papers
NM_000151.4
p.F322L
c.966C>G
6 papers
NM_000151.4
p.F322L
c.964T>C
2 papers
NM_000151.4
p.F322V
c.964T>G
1 paper
NM_000151.4
p.V321I
c.961G>A
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