Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E51G

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
3 papers
NM_000162.5
p.E51G
c.152A>G
Surrounding Variants
3 papers
NM_000162.5
p.E51V
c.152A>T
3 papers
NM_000162.5
p.E51A
c.152A>C
4 papers
NM_000162.5
p.E51*
c.151G>T
3 papers
NM_000162.5
p.E51Q
c.151G>C
3 papers
NM_000162.5
p.E51K
c.151G>A
4 papers
NM_000162.5
p.E51D
c.153A>T
3 papers
NM_000162.5
p.E51D
c.153A>C
3 papers
NM_000162.5
p.H50fs
c.148_149fs
3 papers
NM_000162.5
p.H50insFs
c.149dupA
3 papers
NM_000162.5
p.H50Q
c.150T>G
3 papers
NM_000162.5
p.H50Q
c.150T>A
1 paper
NM_000162.5
p.E52*
c.154G>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."