Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V244E

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
2 papers
NM_000162.5
p.V244E
c.731T>A
Surrounding Variants
2 papers
NM_000162.5
p.V244G
c.731T>G
2 papers
NM_000162.5
p.L243delFs
c.729delC
2 papers
NM_000162.5
p.V244L
c.730G>T
1 paper
NM_000162.5
p.V244fs
c.730_731fs
1 paper
NM_000162.5
p.V244L
c.730G>C
1 paper
NM_000162.5
p.V244M
c.730G>A
2 papers
NM_033507.3
p.E246Q
c.736G>C
NM_000162.5
p.E245Q
c.733G>C
3 papers
NM_000162.5
p.L243P
c.728T>C
1 paper
NM_000162.5
p.E245V
c.734A>T
1 paper
NM_000162.5
p.E245G
c.734A>G
2 papers
NM_000162.5
p.E245A
c.734A>C
7 papers
NM_000162.5
p.G246R
c.736G>C
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."