Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G227Splc

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
1 paper
NM_000162.5
p.G227Splc
c.680-2A>T
Surrounding Variants
2 papers
NM_000162.5
p.G227Splc
c.680-2A>G
2 papers
NM_000162.5
p.G227Splc
c.680-2A>C
11 papers
NM_000162.5
p.G227C
c.679G>T
4 papers
NM_000162.5
p.G227R
c.679G>C
6 papers
NM_000162.5
p.G227S
c.679G>A
1 paper
NM_000162.5
p.G227A
c.680G>C
1 paper
NM_000162.5
p.G227D
c.680G>A
2 papers
NM_000162.5
p.G227fs
c.679_680fs
1 paper
NM_000162.5
p.G227Splc
c.680-6C>G
2 papers
NM_000162.5
p.G227Splc
c.680-6C>A
14 papers
NM_000162.5
p.T228A
c.682A>G
62 papers
NM_000162.5
p.T228M
c.683C>T
NM_033507.3
p.T229M
c.686C>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."