Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q26delFs

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.Q26delFs
c.76delG
Surrounding Variants
5 papers
NM_000162.5
p.Q26L
c.77A>T
3 papers
NM_000162.5
p.Q26R
c.77A>G
3 papers
NM_000162.5
p.Q26P
c.77A>C
3 papers
NM_000162.5
p.Q26H
c.78G>T
3 papers
NM_000162.5
p.Q26H
c.78G>C
1 paper
NM_000162.5
p.Q26fs
c.76_77fs
11 papers
NM_000162.5
p.Q26*
c.76C>T
3 papers
NM_000162.5
p.Q26E
c.76C>G
3 papers
NM_000162.5
p.Q26K
c.76C>A
1 paper
NM_000162.5
p.E27*
c.79G>T
3 papers
NM_000162.5
p.E27Q
c.79G>C
4 papers
NM_000162.5
p.E27K
c.79G>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."