Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.S15*

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.S15*
c.44C>A
Surrounding Variants
1 paper
NM_000151.4
p.S15*
c.44C>G
8 papers
NM_000151.4
p.T16A
c.46A>G
2 papers
NM_000151.4
p.Q14R
c.41A>G
2 papers
NM_000151.4
p.T16R
c.47C>G
1 paper
NM_000151.4
p.T16I
c.47C>T
1 paper
NM_000151.4
p.H17insFs
c.49_50insT
1 paper
NM_000151.4
p.Y18_L19ins4
c.52_56ins12
1 paper
NM_000151.4
p.Q20*
c.58C>T
1 paper
NM_000151.4
p.D10A
c.29A>C
10 papers
NM_000151.4
p.Q20R
c.59A>G
1 paper
NM_000151.4
p.V21delFs
c.61delG
1 paper
NM_000151.4
p.V21V
c.63G>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."