Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E27G

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
3 papers
NM_000162.5
p.E27G
c.80A>G
Surrounding Variants
3 papers
NM_000162.5
p.E27V
c.80A>T
3 papers
NM_000162.5
p.E27A
c.80A>C
3 papers
NM_000162.5
p.E27D
c.81G>T
1 paper
NM_000162.5
p.E27*
c.79G>T
6 papers
NM_000162.5
p.E27D
c.81G>C
3 papers
NM_000162.5
p.E27Q
c.79G>C
4 papers
NM_000162.5
p.E27K
c.79G>A
3 papers
NM_000162.5
p.Q26H
c.78G>T
3 papers
NM_000162.5
p.E28Q
c.82G>C
3 papers
NM_000162.5
p.Q26H
c.78G>C
5 papers
NM_000162.5
p.E28K
c.82G>A
5 papers
NM_000162.5
p.Q26L
c.77A>T
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."