Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.A331A

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.A331A
c.993G>C
Surrounding Variants
4 papers
NM_000151.4
p.A331V
c.992C>T
1 paper
NM_000151.4
p.V332L
c.994G>C
1 paper
NM_000151.4
p.V332L
c.994G>T
1 paper
NM_000151.4
p.V332A
c.995T>C
1 paper
NM_000151.4
p.P334delFs
c.1000_1001delCC
2 papers
NM_000151.4
p.K329M
c.986A>T
1 paper
NM_000151.4
p.K329E
c.985A>G
1 paper
NM_000151.4
p.C328R
c.982T>C
11 papers
NM_000151.4
p.F327del1
c.979_980delTTC
1 paper
NM_000151.4
p.S326P
c.976T>C
1 paper
NM_000151.4
p.V338I
c.1012G>A
16 papers
NM_000151.4
p.V338F
c.1012G>T
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