Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V226M

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
40 papers
NM_000162.5
p.V226M
c.676G>A
NM_033507.3
p.V227M
c.679G>A
Surrounding Variants
2 papers
NM_000162.5
p.V226L
c.676G>T
2 papers
NM_000162.5
p.V226L
c.676G>C
1 paper
NM_000162.5
p.V226fs
c.676_677fs
1 paper
NM_000162.5
p.V226G
c.677T>G
1 paper
NM_000162.5
p.V226A
c.677T>C
2 papers
NM_000162.5
p.V226E
c.677T>A
7 papers
NM_000162.5
p.I225M
c.675C>G
1 paper
NM_000162.5
p.I225insFs
c.673dupA
2 papers
NM_000162.5
p.I225T
c.674T>C
1 paper
NM_000162.5
p.V226V
c.678G>T
1 paper
NM_000162.5
p.G227insFs
c.679_680ins5
1 paper
NM_000162.5
p.G227insFs
c.679_680ins13
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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."