Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M235V

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
12 papers
NM_000162.5
p.M235V
c.703A>G
Surrounding Variants
3 papers
NM_000162.5
p.M235L
c.703A>T
3 papers
NM_000162.5
p.M235L
c.703A>C
1 paper
NM_000162.5
p.M235R
c.704T>G
22 papers
NM_000162.5
p.M235T
c.704T>C
1 paper
NM_000162.5
p.M235K
c.704T>A
2 papers
NM_000162.5
p.Y234*
c.702C>G
2 papers
NM_000162.5
p.Y234*
c.702C>A
1 paper
NM_000162.5
p.Y234S
c.701A>C
6 papers
NM_000162.5
p.Y234H
c.700T>C
1 paper
NM_000162.5
p.E236*
c.706G>T
10 papers
NM_000162.5
p.E236K
c.706G>A
1 paper
NM_000162.5
p.C233C
c.699C>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."