Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.H52L

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.H52L
c.155A>T
Surrounding Variants
1 paper
NM_000151.4
p.F51S
c.152T>C
4 papers
NM_000151.4
p.W50*
c.150G>A
11 papers
NM_000151.4
p.Q54P
c.161A>C
4 papers
NM_000151.4
p.W50*
c.149G>A
1 paper
NM_000151.4
p.W50_F51delFs
c.150_151delGT
1 paper
NM_000151.4
p.W50fs
c.148_149fs
1 paper
NM_000151.4
p.I49_W50insT
c.145_149ins3
1 paper
NM_000151.4
p.P48P
c.144C>A
1 paper
NM_000151.4
p.P48L
c.143C>T
1 paper
NM_000151.4
p.F47L
c.141C>G
1 paper
NM_000151.4
p.G58delFs
c.172_173delGG
1 paper
NM_000151.4
p.L46P
c.137T>C
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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."