Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E290*

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.E290*
c.868G>T
Surrounding Variants
2 papers
NM_000162.5
p.E290Q
c.868G>C
2 papers
NM_000162.5
p.E290K
c.868G>A
4 papers
NM_000162.5
p.Y289*
c.867T>G
4 papers
NM_000162.5
p.Y289*
c.867T>A
1 paper
NM_000162.5
p.E290G
c.869A>G
2 papers
NM_000162.5
p.E290A
c.869A>C
2 papers
NM_000162.5
p.E290D
c.870G>T
2 papers
NM_000162.5
p.E290D
c.870G>C
1 paper
NM_000162.5
p.Y289F
c.866A>T
4 papers
NM_000162.5
p.Y289C
c.866A>G
1 paper
NM_000162.5
p.Y289delFs
c.865delA
4 papers
NM_000162.5
p.Y289H
c.865T>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."