Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q287K

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
2 papers
NM_000162.5
p.Q287K
c.859C>A
Surrounding Variants
3 papers
NM_000162.5
p.Q287*
c.859C>T
2 papers
NM_000162.5
p.Q286H
c.858G>T
1 paper
NM_000162.5
p.Q286H
c.858G>C
1 paper
NM_000162.5
p.Q287L
c.860A>T
4 papers
NM_000162.5
p.Q287P
c.860A>C
1 paper
NM_000162.5
p.Q286fs
c.856_857fs
3 papers
NM_000162.5
p.Q286*
c.856C>T
1 paper
NM_000162.5
p.L288insFs
c.863_864insC
2 papers
NM_000162.5
p.G285fs
c.853_854fs
1 paper
NM_000162.5
p.L288R
c.863T>G
2 papers
NM_000162.5
p.L288P
c.863T>C
1 paper
NM_000162.5
p.L288Q
c.863T>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."