Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q286*

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
3 papers
NM_000162.5
p.Q286*
c.856C>T
Surrounding Variants
1 paper
NM_000162.5
p.Q286fs
c.856_857fs
2 papers
NM_000162.5
p.G285fs
c.853_854fs
2 papers
NM_000162.5
p.Q286H
c.858G>T
1 paper
NM_000162.5
p.G285V
c.854G>T
1 paper
NM_000162.5
p.Q286H
c.858G>C
1 paper
NM_000162.5
p.G285D
c.854G>A
1 paper
NM_000162.5
p.G285fs
c.853_854fs
1 paper
NM_000162.5
p.G285C
c.853G>T
2 papers
NM_000162.5
p.G285R
c.853G>C
1 paper
NM_000162.5
p.G285S
c.853G>A
3 papers
NM_000162.5
p.P284delFs
c.852delG
3 papers
NM_000162.5
p.Q287*
c.859C>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."