Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G227Splc

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.G227Splc
c.679+5G>C
Surrounding Variants
2 papers
NM_000162.5
p.G227Splc
c.679+5G>A
1 paper
NM_000162.5
p.V226_G227delFs
c.676_679del4
1 paper
NM_000162.5
p.G227Splc
c.679+2T>C
1 paper
NM_000162.5
p.G227Splc
c.679+2T>A
1 paper
NM_000162.5
p.E221_G227delFs
c.663_679del17
1 paper
NM_000162.5
p.G227Splc
c.679+1G>C
7 papers
NM_000162.5
p.G227Splc
c.679+1G>A
1 paper
NM_000162.5
p.G227insFs
c.679_680ins5
1 paper
NM_000162.5
p.G227insFs
c.679_680ins13
2 papers
NM_000162.5
p.G227R
c.679G>C
6 papers
NM_000162.5
p.G227S
c.679G>A
1 paper
NM_000162.5
p.V226V
c.678G>T
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