Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G97E

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.G97E
c.290G>A
Surrounding Variants
1 paper
NM_000162.5
p.G97W
c.289G>T
1 paper
NM_000162.5
p.G97fs
c.289_290fs
1 paper
NM_000162.5
p.G97R
c.289G>C
1 paper
NM_000162.5
p.G97R
c.289G>A
1 paper
NM_000162.5
p.E96Fs
c.288delinsTGFs
3 papers
NM_000162.5
p.E96D
c.288G>C
9 papers
NM_000162.5
p.Q98*
c.292C>T
1 paper
NM_000162.5
p.G97insFs
c.290dupG
1 paper
NM_000162.5
p.E96V
c.287A>T
1 paper
NM_000162.5
p.E96A
c.287A>C
36 papers
NM_000162.5
p.W99R
c.295T>C
36 papers
NM_000162.5
p.W99R
c.295T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."