Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C230G

GCK

1,015 papers

RefSeq Summary

This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to ot...

Pfam Domains

Hexokinase_1aa 15–215UCSCHexokinase
Hexokinase_2aa 16–133UCSCHexokinase
Hexokinase_2aa 221–455UCSCHexokinase

Gene Aliases

HGNC Name

glucokinase

HGNC Previous Symbol

MODY2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000162.5
p.C230G
c.688T>G
Surrounding Variants
2 papers
NM_000162.5
p.C230S
c.688T>A
2 papers
NM_000162.5
p.C230S
c.689G>C
4 papers
NM_000162.5
p.C230Y
c.689G>A
1 paper
NM_000162.5
p.G229fs
c.685_686fs
2 papers
NM_000162.5
p.G229delFs
c.686delC
2 papers
NM_000162.5
p.G229V
c.686G>T
1 paper
NM_000162.5
p.G229A
c.686G>C
4 papers
NM_000162.5
p.G229D
c.686G>A
1 paper
NM_000162.5
p.G229S
c.685G>A
1 paper
NM_000162.5
p.N231Y
c.691A>T
3 papers
NM_000162.5
p.N231H
c.691A>C
1 paper
NM_000162.5
p.N231I
c.692A>T
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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."