Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.G184E

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
7 papers
NM_000151.4
p.G184E
c.551G>A
Surrounding Variants
6 papers
NM_000151.4
p.G184V
c.551G>T
1 paper
NM_000151.4
p.G184R
c.550G>A
1 paper
NM_000151.4
p.G184R
c.550G>C
1 paper
NM_000151.4
p.G184*
c.550G>T
3 papers
NM_000151.4
p.V185A
c.554T>C
9 papers
NM_000151.4
p.G188S
c.562G>A
30 papers
NM_000151.4
p.G188R
c.562G>C
6 papers
NM_000151.4
p.G188Splc
c.562+1G>A
1 paper
NM_000151.4
p.G188V
c.563G>T
4 papers
NM_000151.4
p.H179P
c.536A>C
1 paper
NM_000151.4
p.H179delFs
c.537delT
1 paper
NM_000151.4
p.H179fs
c.535_536fs
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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."