Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.V308L

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.V308L
c.922G>C
Surrounding Variants
1 paper
NM_000151.4
p.V308I
c.922G>A
1 paper
NM_000151.4
p.F309delFs
c.927delT
2 papers
NM_000151.4
p.S311_L312insFs
c.933_934insAA
1 paper
NM_000151.4
p.L312insFs
c.935dupT
1 paper
NM_000151.4
p.V304I
c.910G>A
1 paper
NM_000151.4
p.L312F
c.936G>C
1 paper
NM_000151.4
p.L312F
c.936G>T
1 paper
NM_000151.4
p.A301V
c.902C>T
1 paper
NM_000151.4
p.V300delFs
c.900delA
1 paper
NM_000151.4
p.S316P
c.946T>C
1 paper
NM_000151.4
p.I299T
c.896T>C
1 paper
NM_000151.4
p.S298Y
c.893C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."