Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T103I

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
3 papers
NM_000162.5
p.T103I
c.308C>T
Surrounding Variants
7 papers
NM_000162.5
p.T103S
c.308C>G
5 papers
NM_000162.5
p.T103N
c.308C>A
6 papers
NM_000162.5
p.T103S
c.307A>T
1 paper
NM_000162.5
p.T103A
c.307A>G
2 papers
NM_000162.5
p.T103P
c.307A>C
2 papers
NM_000162.5
p.K104E
c.310A>G
1 paper
NM_000162.5
p.K102Q
c.304A>C
1 paper
NM_000162.5
p.K104_H105insFs
c.312_313ins11
1 paper
NM_000162.5
p.H105insFs
c.313_314ins11
1 paper
NM_000162.5
p.H105fs
c.313_314fs
1 paper
NM_000162.5
p.V101A
c.302T>C
1 paper
NM_000162.5
p.V101delFs
c.301delC
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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."