Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.P248delFs

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.P248delFs
c.743delC
Surrounding Variants
2 papers
NM_000151.4
p.Q247R
c.740A>G
1 paper
NM_000151.4
p.E249del1
c.745_746delGAA
1 paper
NM_000151.4
p.C245_E246insFs
c.735_736insG
1 paper
NM_000151.4
p.C245insFs
c.734_735insC
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
1 paper
NM_000151.4
p.I253delFs
c.757delA
1 paper
NM_000151.4
p.I253fs
c.757_758fs
7 papers
NM_000151.4
p.Q242*
c.724C>T
1 paper
NM_000151.4
p.D254A
c.761A>C
4 papers
NM_000151.4
p.A241T
c.721G>A
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