Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A282V

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.A282V
c.845C>T
Surrounding Variants
3 papers
NM_000162.5
p.A282G
c.845C>G
3 papers
NM_000162.5
p.A282E
c.845C>A
3 papers
NM_000162.5
p.A282S
c.844G>T
3 papers
NM_000162.5
p.A282P
c.844G>C
5 papers
NM_000162.5
p.A282T
c.844G>A
1 paper
NM_000162.5
p.A282fs
c.844_845fs
1 paper
NM_000162.5
p.N283fs
c.847_848fs
4 papers
NM_000162.5
p.S281F
c.842C>T
1 paper
NM_000162.5
p.N283I
c.848A>T
2 papers
NM_000162.5
p.S281A
c.841T>G
1 paper
NM_000162.5
p.S281P
c.841T>C
1 paper
NM_000162.5
p.S280delFs
c.840delG
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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."