Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C233S

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.C233S
c.697T>A
Surrounding Variants
9 papers
NM_000162.5
p.C233R
c.697T>C
1 paper
NM_000162.5
p.C233S
c.698G>C
4 papers
NM_000162.5
p.C233Y
c.698G>A
3 papers
NM_000162.5
p.A232V
c.695C>T
1 paper
NM_000162.5
p.C233C
c.699C>T
4 papers
NM_000162.5
p.A232G
c.695C>G
1 paper
NM_000162.5
p.C233W
c.699C>G
7 papers
NM_000162.5
p.A232D
c.695C>A
6 papers
NM_000162.5
p.Y234H
c.700T>C
3 papers
NM_000162.5
p.A232S
c.694G>T
3 papers
NM_000162.5
p.A232P
c.694G>C
3 papers
NM_000162.5
p.A232T
c.694G>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."