Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D73delFs

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.D73delFs
c.217delC
Surrounding Variants
6 papers
NM_000162.5
p.D73G
c.218A>G
1 paper
NM_000162.5
p.D73A
c.218A>C
1 paper
NM_000162.5
p.G72_D73insFs
c.216_217dupGG
1 paper
NM_000162.5
p.D73Y
c.217G>T
4 papers
NM_000162.5
p.D73E
c.219C>G
2 papers
NM_000162.5
p.D73fs
c.217_218fs
4 papers
NM_000162.5
p.D73E
c.219C>A
1 paper
NM_000162.5
p.D73fs
c.217_218fs
1 paper
NM_000162.5
p.F74I
c.220T>A
1 paper
NM_000162.5
p.F74Y
c.221T>A
2 papers
NM_000162.5
p.G72A
c.215G>C
3 papers
NM_000162.5
p.G72E
c.215G>A
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