Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.A175delFs

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.A175delFs
c.525delT
Surrounding Variants
4 papers
NM_000151.4
p.H176N
c.526C>A
1 paper
NM_000151.4
p.H176Y
c.526C>T
4 papers
NM_000151.4
p.H176R
c.527A>G
3 papers
NM_000151.4
p.H176_F177insFs
c.528_529insC
1 paper
NM_000151.4
p.F177insFs
c.529_530insC
11 papers
NM_000151.4
p.L173P
c.518T>C
2 papers
NM_000151.4
p.F177C
c.530T>G
2 papers
NM_000151.4
p.L173insFs
c.518_519insTG
4 papers
NM_000151.4
p.Y172*
c.516C>A
4 papers
NM_000151.4
p.Y172*
c.516C>G
2 papers
NM_000151.4
p.P178A
c.532C>G
10 papers
NM_000151.4
p.P178S
c.532C>T
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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."