Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.D254A

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.D254A
c.761A>C
Surrounding Variants
2 papers
NM_000151.4
p.T255A
c.763A>G
1 paper
NM_000151.4
p.T256_A259del0
c.766_777del12
7 papers
NM_000151.4
p.T255I
c.764C>T
1 paper
NM_000151.4
p.I253fs
c.757_758fs
1 paper
NM_000151.4
p.T256del1
c.766_768delACA
1 paper
NM_000151.4
p.I253delFs
c.757delA
13 papers
NM_000151.4
p.P257L
c.770C>T
1 paper
NM_000151.4
p.E249del1
c.745_746delGAA
2 papers
NM_000151.4
p.S260N
c.779G>A
1 paper
NM_000151.4
p.P248delFs
c.743delC
2 papers
NM_000151.4
p.Q247R
c.740A>G
3 papers
NM_000151.4
p.L262H
c.785T>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."