Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G249A

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.G249A
c.746G>C
Surrounding Variants
2 papers
NM_000162.5
p.G249D
c.746G>A
2 papers
NM_000162.5
p.G249R
c.745G>C
3 papers
NM_000162.5
p.G249S
c.745G>A
1 paper
NM_000162.5
p.E248delFs
c.743delT
18 papers
NM_000162.5
p.R250C
c.748C>T
3 papers
NM_000162.5
p.R250G
c.748C>G
3 papers
NM_000162.5
p.R250S
c.748C>A
3 papers
NM_000162.5
p.R250L
c.749G>T
4 papers
NM_000162.5
p.R250P
c.749G>C
8 papers
NM_000162.5
p.R250H
c.749G>A
1 paper
NM_000162.5
p.E248A
c.743A>C
5 papers
NM_000162.5
p.E248*
c.742G>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."