Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E248K

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
7 papers
NM_000162.5
p.E248K
c.742G>A
Surrounding Variants
5 papers
NM_000162.5
p.E248*
c.742G>T
1 paper
NM_000162.5
p.E248Q
c.742G>C
1 paper
NM_000162.5
p.D247fs
c.739_740fs
1 paper
NM_000162.5
p.E248A
c.743A>C
1 paper
NM_000162.5
p.E248delFs
c.743delT
1 paper
NM_000162.5
p.D247V
c.740A>T
1 paper
NM_000162.5
p.D247A
c.740A>C
1 paper
NM_000162.5
p.D247delFs
c.739delC
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.G249A
c.746G>C
2 papers
NM_000162.5
p.G249D
c.746G>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."