Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y273*

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
2 papers
NM_000162.5
p.Y273*
c.819T>G
Surrounding Variants
2 papers
NM_000162.5
p.Y273*
c.819T>A
1 paper
NM_000162.5
p.D274H
c.820G>C
1 paper
NM_000162.5
p.D274N
c.820G>A
1 paper
NM_000162.5
p.Y273N
c.817T>A
1 paper
NM_000162.5
p.D274V
c.821A>T
2 papers
NM_000162.5
p.D274G
c.821A>G
1 paper
NM_000162.5
p.E272D
c.816G>T
1 paper
NM_000162.5
p.E272D
c.816G>C
3 papers
NM_000162.5
p.D274E
c.822C>G
3 papers
NM_000162.5
p.D274E
c.822C>A
26 papers
NM_000162.5
p.R275C
c.823C>T
4 papers
NM_000162.5
p.R275G
c.823C>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."