Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S336*

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.S336*
c.1007C>A
Surrounding Variants
18 papers
NM_000162.5
p.S336L
c.1007C>T
3 papers
NM_000162.5
p.S336W
c.1007C>G
3 papers
NM_000162.5
p.Q337*
c.1009C>T
1 paper
NM_000162.5
p.V335E
c.1004T>A
2 papers
NM_000162.5
p.Q337P
c.1010A>C
1 paper
NM_000162.5
p.V335L
c.1003G>T
1 paper
NM_000162.5
p.F334insFs
c.1002dupC
1 paper
NM_000162.5
p.V335L
c.1003G>C
1 paper
NM_000162.5
p.V335fs
c.1003_1004fs
2 papers
NM_000162.5
p.Q337delFs
c.1010delT
1 paper
NM_000162.5
p.V338L
c.1012G>T
1 paper
NM_000162.5
p.V338L
c.1012G>C
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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."