Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T228K

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.T228K
c.683C>A
Surrounding Variants
62 papers
NM_000162.5
p.T228M
c.683C>T
NM_033507.3
p.T229M
c.686C>T
4 papers
NM_000162.5
p.T228R
c.683C>G
14 papers
NM_000162.5
p.T228A
c.682A>G
1 paper
NM_000162.5
p.G229S
c.685G>A
2 papers
NM_000162.5
p.G229V
c.686G>T
1 paper
NM_000162.5
p.G229A
c.686G>C
1 paper
NM_000162.5
p.G227A
c.680G>C
4 papers
NM_000162.5
p.G229D
c.686G>A
1 paper
NM_000162.5
p.G227D
c.680G>A
2 papers
NM_000162.5
p.G227fs
c.679_680fs
11 papers
NM_000162.5
p.G227C
c.679G>T
4 papers
NM_000162.5
p.G227R
c.679G>C
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