Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G117R

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
5 papers
NM_000162.5
p.G117R
c.349G>C
Surrounding Variants
5 papers
NM_000162.5
p.G117S
c.349G>A
2 papers
NM_000162.5
p.G117V
c.350G>T
1 paper
NM_000162.5
p.T116T
c.348C>T
2 papers
NM_000162.5
p.T116I
c.347C>T
1 paper
NM_000162.5
p.G117fs
c.349_350fs
2 papers
NM_000162.5
p.T118fs
c.352_353fs
1 paper
NM_000162.5
p.T116A
c.346A>G
3 papers
NM_000162.5
p.T116P
c.346A>C
3 papers
NM_000162.5
p.M115I
c.345G>T
1 paper
NM_000162.5
p.M115insFs
c.344dupT
3 papers
NM_000162.5
p.M115I
c.345G>C
3 papers
NM_000162.5
p.M115I
c.345G>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."