Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S54R

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
5 papers
NM_000162.5
p.S54R
c.160A>C
Surrounding Variants
2 papers
NM_000162.5
p.S54C
c.160A>T
3 papers
NM_000162.5
p.S54G
c.160A>G
2 papers
NM_000162.5
p.S54I
c.161G>T
3 papers
NM_000162.5
p.S54T
c.161G>C
4 papers
NM_000162.5
p.S54N
c.161G>A
5 papers
NM_000162.5
p.S54R
c.162T>G
1 paper
NM_000162.5
p.S54S
c.162T>C
5 papers
NM_000162.5
p.S54R
c.162T>A
9 papers
NM_000162.5
p.A53V
c.158C>T
3 papers
NM_000162.5
p.A53G
c.158C>G
4 papers
NM_000162.5
p.A53D
c.158C>A
20 papers
NM_000162.5
p.A53S
c.157G>T
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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."