Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R308W

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
13 papers
NM_000162.5
p.R308W
c.922A>T
Surrounding Variants
3 papers
NM_000162.5
p.R308G
c.922A>G
3 papers
NM_000162.5
p.R308M
c.923G>T
3 papers
NM_000162.5
p.R308T
c.923G>C
8 papers
NM_000162.5
p.R308K
c.923G>A
1 paper
NM_000162.5
p.L307P
c.920T>C
4 papers
NM_000162.5
p.R308S
c.924G>T
4 papers
NM_000162.5
p.R308S
c.924G>C
4 papers
NM_000162.5
p.L307F
c.919C>T
1 paper
NM_000162.5
p.L309I
c.925C>A
5 papers
NM_000162.5
p.L309R
c.926T>G
18 papers
NM_000162.5
p.L309P
c.926T>C
2 papers
NM_000162.5
p.L309H
c.926T>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."