Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.L32_V33delFs

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.L32_V33delFs
c.96_97delGG
Surrounding Variants
1 paper
NM_000151.4
p.L32F
c.96G>C
1 paper
NM_000151.4
p.L32F
c.96G>T
1 paper
NM_000151.4
p.L32fs
c.94_95fs
2 papers
NM_000151.4
p.V33insFs
c.97_98ins4
1 paper
NM_000151.4
p.V33A
c.98T>C
1 paper
NM_000151.4
p.I31_L32del1
c.92_94delTCT
1 paper
NM_000151.4
p.V35delFs
c.103delG
1 paper
NM_000151.4
p.D28D
c.84C>T
1 paper
NM_000151.4
p.A37P
c.109G>C
1 paper
NM_000151.4
p.Q27fs
c.79_80fs
2 papers
NM_000151.4
p.Q27*
c.79C>T
6 papers
NM_000151.4
p.Q27fs
c.79_80fs
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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."