Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E52*

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.E52*
c.154G>T
Surrounding Variants
3 papers
NM_000162.5
p.E52Q
c.154G>C
5 papers
NM_000162.5
p.E52K
c.154G>A
4 papers
NM_000162.5
p.E51D
c.153A>T
3 papers
NM_000162.5
p.E52V
c.155A>T
3 papers
NM_000162.5
p.E52G
c.155A>G
3 papers
NM_000162.5
p.E52A
c.155A>C
3 papers
NM_000162.5
p.E51D
c.153A>C
2 papers
NM_000162.5
p.E52D
c.156G>T
2 papers
NM_000162.5
p.E52D
c.156G>C
3 papers
NM_000162.5
p.E51V
c.152A>T
3 papers
NM_000162.5
p.E51G
c.152A>G
3 papers
NM_000162.5
p.E51A
c.152A>C
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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."