Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A329D

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.A329D
c.986C>A
Surrounding Variants
4 papers
NM_000162.5
p.A329V
c.986C>T
3 papers
NM_000162.5
p.A329G
c.986C>G
3 papers
NM_000162.5
p.A329S
c.985G>T
4 papers
NM_000162.5
p.A329P
c.985G>C
3 papers
NM_000162.5
p.A329T
c.985G>A
2 papers
NM_000162.5
p.F330V
c.988T>G
1 paper
NM_000162.5
p.F330L
c.988T>C
1 paper
NM_000162.5
p.G328delFs
c.982delC
1 paper
NM_000162.5
p.F330C
c.989T>G
2 papers
NM_000162.5
p.F330S
c.989T>C
1 paper
NM_000162.5
p.G328R
c.982G>C
1 paper
NM_000162.5
p.G328R
c.982G>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."