Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G193E

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.G193E
c.578G>A
Surrounding Variants
8 papers
NM_000162.5
p.G193G
c.579G>T
6 papers
NM_000162.5
p.G193W
c.577G>T
1 paper
NM_000162.5
p.G193_D194insFs
c.579_580ins26
1 paper
NM_000162.5
p.G193_D194ins9
c.579_580ins27
5 papers
NM_000162.5
p.G193R
c.577G>C
5 papers
NM_000162.5
p.G193R
c.577G>A
1 paper
NM_000162.5
p.G193_D194Splc
c.579+1G>T
2 papers
NM_000162.5
p.G193_D194Splc
c.579+1G>C
3 papers
NM_000162.5
p.G193_D194Splc
c.579+1G>A
1 paper
NM_000162.5
p.R186_G193del0
c.556_579del24
4 papers
NM_000162.5
p.R192S
c.576A>T
4 papers
NM_000162.5
p.R192S
c.576A>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."