Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K56M

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.K56M
c.167A>T
Surrounding Variants
2 papers
NM_000162.5
p.K56R
c.167A>G
5 papers
NM_000162.5
p.K56T
c.167A>C
2 papers
NM_000162.5
p.K56N
c.168G>T
2 papers
NM_000162.5
p.K56N
c.168G>C
2 papers
NM_000162.5
p.K56E
c.166A>G
2 papers
NM_000162.5
p.K56Q
c.166A>C
2 papers
NM_000162.5
p.M57L
c.169A>T
3 papers
NM_000162.5
p.M57V
c.169A>G
2 papers
NM_000162.5
p.M57L
c.169A>C
1 paper
NM_000162.5
p.K56delFs
c.168delC
5 papers
NM_000162.5
p.M57R
c.170T>G
4 papers
NM_000162.5
p.V55G
c.164T>G
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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."