Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K291N

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.K291N
c.873G>T
Surrounding Variants
1 paper
NM_000162.5
p.K291_L292insFs
c.873_874insC
1 paper
NM_000162.5
p.K291insFs
c.872dupA
1 paper
NM_000162.5
p.K291N
c.873G>C
1 paper
NM_000162.5
p.K291delFs
c.872delT
1 paper
NM_000162.5
p.K291M
c.872A>T
1 paper
NM_000162.5
p.K291T
c.872A>C
1 paper
NM_000162.5
p.K291insFs
c.872_873insC
1 paper
NM_000162.5
p.L292P
c.875T>C
1 paper
NM_000162.5
p.L292H
c.875T>A
3 papers
NM_000162.5
p.K291*
c.871A>T
1 paper
NM_000162.5
p.K291E
c.871A>G
1 paper
NM_000162.5
p.K291Q
c.871A>C
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