Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R327H

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
5 papers
NM_000162.5
p.R327H
c.980G>A
Surrounding Variants
3 papers
NM_000162.5
p.R327L
c.980G>T
3 papers
NM_000162.5
p.R327P
c.980G>C
3 papers
NM_000162.5
p.R327C
c.979C>T
3 papers
NM_000162.5
p.R327G
c.979C>G
3 papers
NM_000162.5
p.R327S
c.979C>A
1 paper
NM_000162.5
p.G328R
c.982G>C
1 paper
NM_000162.5
p.G328R
c.982G>A
1 paper
NM_000162.5
p.G328fs
c.982_983fs
3 papers
NM_000162.5
p.T326P
c.976A>C
1 paper
NM_000162.5
p.G328delFs
c.982delC
3 papers
NM_000162.5
p.A329S
c.985G>T
4 papers
NM_000162.5
p.A329P
c.985G>C
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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."