Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.I189insFs

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.I189insFs
c.565_566ins4
Surrounding Variants
5 papers
NM_000162.5
p.I189V
c.565A>G
3 papers
NM_000162.5
p.I189T
c.566T>C
10 papers
NM_000162.5
p.A188V
c.563C>T
5 papers
NM_000162.5
p.A188G
c.563C>G
2 papers
NM_000162.5
p.I189M
c.567C>G
1 paper
NM_000162.5
p.I189_K190insFs
c.567_568ins4
1 paper
NM_000162.5
p.A188D
c.563C>A
3 papers
NM_000162.5
p.A188S
c.562G>T
5 papers
NM_000162.5
p.A188P
c.562G>C
41 papers
NM_000162.5
p.A188T
c.562G>A
NM_033507.3
p.A189T
c.565G>A
1 paper
NM_000162.5
p.K190E
c.568A>G
1 paper
NM_000162.5
p.D187D
c.561C>T
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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."