Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E300V

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.E300V
c.899A>T
Surrounding Variants
1 paper
NM_000162.5
p.E300A
c.899A>C
4 papers
NM_000162.5
p.E300*
c.898G>T
1 paper
NM_000162.5
p.E300D
c.900G>T
15 papers
NM_000162.5
p.E300Q
c.898G>C
1 paper
NM_000162.5
p.E300D
c.900G>C
43 papers
NM_000162.5
p.E300K
c.898G>A
2 papers
NM_000162.5
p.G299fs
c.895_896fs
2 papers
NM_000162.5
p.L301M
c.901C>A
2 papers
NM_000162.5
p.G299delFs
c.896delC
2 papers
NM_000162.5
p.L301P
c.902T>C
2 papers
NM_000162.5
p.G299V
c.896G>T
5 papers
NM_000162.5
p.G299D
c.896G>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."