Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.L101insFs

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.L101insFs
c.302_303insCG
Surrounding Variants
1 paper
NM_000151.4
p.I102K
c.305T>A
1 paper
NM_000151.4
p.V99G
c.296T>G
1 paper
NM_000151.4
p.V99fs
c.295_296fs
9 papers
NM_000151.4
p.Q104*
c.310C>T
4 papers
NM_000151.4
p.Q104L
c.311A>T
1 paper
NM_000151.4
p.S98A
c.292T>G
1 paper
NM_000151.4
p.T108P
c.322A>C
12 papers
NM_000151.4
p.T108I
c.323C>T
1 paper
NM_000151.4
p.Y93*
c.279C>A
2 papers
NM_000151.4
p.C109R
c.325T>C
6 papers
NM_000151.4
p.C109Y
c.326G>A
17 papers
NM_000151.4
p.E110K
c.328G>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."