Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M57R

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.M57R
c.170T>G
Surrounding Variants
6 papers
NM_000162.5
p.M57T
c.170T>C
6 papers
NM_000162.5
p.M57K
c.170T>A
3 papers
NM_000162.5
p.M57Fs
c.169_170delinsGFs
6 papers
NM_000162.5
p.M57I
c.171G>T
6 papers
NM_000162.5
p.M57I
c.171G>C
6 papers
NM_000162.5
p.M57I
c.171G>A
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
2 papers
NM_000162.5
p.K56N
c.168G>T
2 papers
NM_000162.5
p.K56N
c.168G>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."