Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E17D

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.E17D
c.51G>T
Surrounding Variants
1 paper
NM_000162.5
p.E17fs
c.49_50fs
3 papers
NM_000162.5
p.E17D
c.51G>C
3 papers
NM_000162.5
p.Q18E
c.52C>G
3 papers
NM_000162.5
p.Q18K
c.52C>A
3 papers
NM_000162.5
p.E17V
c.50A>T
5 papers
NM_000162.5
p.E17G
c.50A>G
3 papers
NM_000162.5
p.E17A
c.50A>C
1 paper
NM_000162.5
p.E17*
c.49G>T
3 papers
NM_000162.5
p.E17Q
c.49G>C
4 papers
NM_000162.5
p.E17K
c.49G>A
4 papers
NM_000162.5
p.Q18L
c.53A>T
NM_033507.3
p.Q19L
c.56A>T
3 papers
NM_000162.5
p.Q18R
c.53A>G
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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."