Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K190E

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.K190E
c.568A>G
Surrounding Variants
2 papers
NM_000162.5
p.I189M
c.567C>G
1 paper
NM_000162.5
p.I189_K190insFs
c.567_568ins4
3 papers
NM_000162.5
p.I189T
c.566T>C
1 paper
NM_000162.5
p.K190N
c.570A>T
1 paper
NM_000162.5
p.K190N
c.570A>C
1 paper
NM_000162.5
p.K190fs
c.568_569fs
57 papers
NM_000162.5
p.R191W
c.571C>T
NM_033507.3
p.R192W
c.574C>T
4 papers
NM_000162.5
p.R191G
c.571C>G
5 papers
NM_000162.5
p.I189V
c.565A>G
1 paper
NM_000162.5
p.I189insFs
c.565_566ins4
4 papers
NM_000162.5
p.R191L
c.572G>T
5 papers
NM_000162.5
p.R191P
c.572G>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."