Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M298L

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.M298L
c.892A>C
Surrounding Variants
1 paper
NM_000162.5
p.M298L
c.892A>T
3 papers
NM_000162.5
p.M298V
c.892A>G
1 paper
NM_000162.5
p.M298T
c.893T>C
12 papers
NM_000162.5
p.M298K
c.893T>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.M298I
c.894G>T
1 paper
NM_000162.5
p.M298I
c.894G>C
1 paper
NM_000162.5
p.M298I
c.894G>A
1 paper
NM_000162.5
p.Y297H
c.889T>C
41 papers
NM_000162.5
p.G299R
c.895G>C
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