Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G318R

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
28 papers
NM_000162.5
p.G318R
c.952G>A
Surrounding Variants
3 papers
NM_000162.5
p.G318W
c.952G>T
27 papers
NM_000162.5
p.G318R
c.952G>C
2 papers
NM_000162.5
p.G318A
c.953G>C
6 papers
NM_000162.5
p.H317Q
c.951C>G
6 papers
NM_000162.5
p.H317Q
c.951C>A
1 paper
NM_000162.5
p.L309_G318delFs
c.925_953del29
3 papers
NM_000162.5
p.H317P
c.950A>C
NM_033507.3
p.H318P
c.953A>C
1 paper
NM_000162.5
p.E319*
c.955G>T
1 paper
NM_000162.5
p.H317_G318insFs
c.951_954dup4
2 papers
NM_000162.5
p.E319Q
c.955G>C
2 papers
NM_000162.5
p.E319K
c.955G>A
1 paper
NM_000162.5
p.F316Y
c.947T>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."