Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.Y85H

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.Y85H
c.253T>C
Surrounding Variants
1 paper
NM_000151.4
p.Y85*
c.255C>A
1 paper
NM_000151.4
p.Y85*
c.255C>G
2 papers
NM_000151.4
p.P84L
c.251C>T
1 paper
NM_000151.4
p.W86delFs
c.256delT
68 papers
NM_000151.4
p.R83H
c.248G>A
2 papers
NM_000151.4
p.W86C
c.258G>C
5 papers
NM_000151.4
p.R83L
c.248G>T
1 paper
NM_000151.4
p.W86C
c.258G>T
4 papers
NM_000151.4
p.R83S
c.247C>A
140 papers
NM_000151.4
p.R83C
c.247C>T
9 papers
NM_000151.4
p.V88delFs
c.262delG
1 paper
NM_000151.4
p.W87fs
c.259_260fs
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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."