Varaico: Literature-Extracted Genetic Variants

Gene:GCK

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
1–12 of 2517 variants
80 papers
NM_000162.5
p.G261R
c.781G>A
77 papers
NM_000162.5
p.G261R
c.781G>C
62 papers
NM_000162.5
p.G72R
c.214G>C
62 papers
NM_000162.5
p.G72R
c.214G>A
60 papers
NM_000162.5
p.T228M
c.683C>T
59 papers
NM_000162.5
p.A456V
c.1367C>T
56 papers
NM_000162.5
p.R191W
c.571C>T
55 papers
NM_000162.5
p.V455M
c.1363G>A
50 papers
NM_000162.5
p.V182M
c.544G>A
46 papers
NM_000162.5
p.V62M
c.184G>A
45 papers
NM_000162.5
p.Y214C
c.641A>G
45 papers
NM_000162.5
p.E256K
c.766G>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."