Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E22V

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.E22V
c.65A>T
Surrounding Variants
3 papers
NM_000162.5
p.E22G
c.65A>G
3 papers
NM_000162.5
p.E22A
c.65A>C
4 papers
NM_000162.5
p.E22D
c.66G>T
1 paper
NM_000162.5
p.E22*
c.64G>T
4 papers
NM_000162.5
p.E22D
c.66G>C
3 papers
NM_000162.5
p.E22Q
c.64G>C
4 papers
NM_000162.5
p.E22K
c.64G>A
5 papers
NM_000162.5
p.F23V
c.67T>G
4 papers
NM_000162.5
p.F23L
c.67T>C
3 papers
NM_000162.5
p.F23I
c.67T>A
3 papers
NM_000162.5
p.F23C
c.68T>G
3 papers
NM_000162.5
p.F23S
c.68T>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."