Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G294R

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.G294R
c.880G>C
Surrounding Variants
1 paper
NM_000162.5
p.G294C
c.880G>T
1 paper
NM_000162.5
p.G294S
c.880G>A
1 paper
NM_000162.5
p.G294V
c.881G>T
4 papers
NM_000162.5
p.G294D
c.881G>A
7 papers
NM_000162.5
p.I293R
c.878T>G
3 papers
NM_000162.5
p.I293T
c.878T>C
5 papers
NM_000162.5
p.G295S
c.883G>A
1 paper
NM_000162.5
p.I293L
c.877A>T
1 paper
NM_000162.5
p.I293L
c.877A>C
6 papers
NM_000162.5
p.G295D
c.884G>A
1 paper
NM_000162.5
p.L292P
c.875T>C
1 paper
NM_000162.5
p.L292H
c.875T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."