Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R303W

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
11 papers
NM_000162.5
p.R303W
c.907C>T
Surrounding Variants
3 papers
NM_000162.5
p.R303G
c.907C>G
6 papers
NM_000162.5
p.R303L
c.908G>T
3 papers
NM_000162.5
p.R303P
c.908G>C
6 papers
NM_000162.5
p.R303Q
c.908G>A
2 papers
NM_000162.5
p.V302E
c.905T>A
5 papers
NM_000162.5
p.V302L
c.904G>T
6 papers
NM_000162.5
p.V302L
c.904G>C
2 papers
NM_000162.5
p.V302M
c.904G>A
2 papers
NM_000162.5
p.L304F
c.910C>T
8 papers
NM_000162.5
p.L304P
c.911T>C
2 papers
NM_000162.5
p.L301P
c.902T>C
1 paper
NM_000162.5
p.V305L
c.913G>T
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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."