Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N231Y

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
1 paper
NM_000162.5
p.N231Y
c.691A>T
Surrounding Variants
3 papers
NM_000162.5
p.N231H
c.691A>C
1 paper
NM_000162.5
p.N231I
c.692A>T
5 papers
NM_000162.5
p.N231S
c.692A>G
2 papers
NM_000162.5
p.N231K
c.693T>G
2 papers
NM_000162.5
p.N231K
c.693T>A
2 papers
NM_000162.5
p.C230S
c.689G>C
4 papers
NM_000162.5
p.C230Y
c.689G>A
1 paper
NM_000162.5
p.C230G
c.688T>G
2 papers
NM_000162.5
p.C230S
c.688T>A
3 papers
NM_000162.5
p.A232S
c.694G>T
3 papers
NM_000162.5
p.A232P
c.694G>C
3 papers
NM_000162.5
p.A232T
c.694G>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."