Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.C245insFs

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.C245insFs
c.734_735insC
Surrounding Variants
1 paper
NM_000151.4
p.C245_E246insFs
c.735_736insG
2 papers
NM_000151.4
p.C245insFs
c.734_735insG
1 paper
NM_000151.4
p.C245fs
c.733_734fs
1 paper
NM_000151.4
p.W244insFs
c.732dupG
2 papers
NM_000151.4
p.Q247R
c.740A>G
1 paper
NM_000151.4
p.P248delFs
c.743delC
1 paper
NM_000151.4
p.E249del1
c.745_746delGAA
7 papers
NM_000151.4
p.Q242*
c.724C>T
4 papers
NM_000151.4
p.A241T
c.721G>A
2 papers
NM_000151.4
p.K240R
c.719A>G
2 papers
NM_000151.4
p.L238delFs
c.714delG
1 paper
NM_000151.4
p.I253delFs
c.757delA
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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."