Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S174*

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.S174*
c.521C>G
Surrounding Variants
3 papers
NM_000162.5
p.S174L
c.521C>T
1 paper
NM_000162.5
p.S174*
c.521C>A
2 papers
NM_000162.5
p.A173_S174delFs
c.517_520del4
25 papers
NM_000162.5
p.G175R
c.523G>C
25 papers
NM_000162.5
p.G175R
c.523G>A
2 papers
NM_000162.5
p.G175V
c.524G>T
4 papers
NM_000162.5
p.G175A
c.524G>C
8 papers
NM_000162.5
p.G175E
c.524G>A
4 papers
NM_000162.5
p.A173V
c.518C>T
3 papers
NM_000162.5
p.A173G
c.518C>G
2 papers
NM_000162.5
p.G170_A173ins1
c.509_517dup9
4 papers
NM_000162.5
p.A173D
c.518C>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."