Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q24E

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.Q24E
c.70C>G
Surrounding Variants
3 papers
NM_000162.5
p.Q24K
c.70C>A
3 papers
NM_000162.5
p.F23L
c.69C>G
3 papers
NM_000162.5
p.F23L
c.69C>A
4 papers
NM_000162.5
p.Q24L
c.71A>T
3 papers
NM_000162.5
p.Q24R
c.71A>G
4 papers
NM_000162.5
p.Q24P
c.71A>C
3 papers
NM_000162.5
p.F23C
c.68T>G
3 papers
NM_000162.5
p.F23S
c.68T>C
3 papers
NM_000162.5
p.F23Y
c.68T>A
4 papers
NM_000162.5
p.Q24H
c.72G>T
4 papers
NM_000162.5
p.Q24H
c.72G>C
1 paper
NM_000162.5
p.Q24Q
c.72G>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."