Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V310_D311delFs

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.V310_D311delFs
c.930_931delCC
Surrounding Variants
1 paper
NM_000162.5
p.D311N
c.931G>A
1 paper
NM_000162.5
p.V310delFs
c.928_929delAC
5 papers
NM_000162.5
p.D311fs
c.931_932fs
1 paper
NM_000162.5
p.E312_N313ins11
c.934_938ins33
2 papers
NM_000162.5
p.E312Q
c.934G>C
2 papers
NM_000162.5
p.E312K
c.934G>A
1 paper
NM_000162.5
p.V310G
c.929T>G
1 paper
NM_000162.5
p.E312V
c.935A>T
1 paper
NM_000162.5
p.E312D
c.936A>T
1 paper
NM_000162.5
p.E312D
c.936A>C
1 paper
NM_000162.5
p.L309fs
c.925_926fs
1 paper
NM_000162.5
p.N313Y
c.937A>T
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