Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K296Q

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
2 papers
NM_000162.5
p.K296Q
c.886A>C
Surrounding Variants
2 papers
NM_000162.5
p.G295delFs
c.884delC
3 papers
NM_000162.5
p.K296M
c.887A>T
1 paper
NM_000162.5
p.K296fs
c.886_887fs
6 papers
NM_000162.5
p.G295D
c.884G>A
1 paper
NM_000162.5
p.Y297H
c.889T>C
5 papers
NM_000162.5
p.G295S
c.883G>A
1 paper
NM_000162.5
p.G294V
c.881G>T
4 papers
NM_000162.5
p.G294D
c.881G>A
4 papers
NM_000162.5
p.Y297*
c.891C>G
4 papers
NM_000162.5
p.Y297*
c.891C>A
1 paper
NM_000162.5
p.G294_Y297Fs
c.880_891delinsCATGGCGAGCTGGTGTFs
1 paper
NM_000162.5
p.G294C
c.880G>T
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