Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.K76*

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.K76*
c.226A>T
Surrounding Variants
1 paper
NM_000151.4
p.K76T
c.227A>C
1 paper
NM_000151.4
p.K76R
c.227A>G
1 paper
NM_000151.4
p.K76M
c.227A>T
4 papers
NM_000151.4
p.K76K
c.228G>A
14 papers
NM_000151.4
p.K76N
c.228G>C
14 papers
NM_000151.4
p.K76N
c.228G>T
13 papers
NM_000151.4
p.W77R
c.229T>A
13 papers
NM_000151.4
p.W77R
c.229T>C
2 papers
NM_000151.4
p.W77Splc
c.230+1G>T
1 paper
NM_000151.4
p.V74I
c.220G>A
3 papers
NM_000151.4
p.W77Splc
c.230+4A>G
10 papers
NM_000151.4
p.W70*
c.210G>A
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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."