Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N240K

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.N240K
c.720T>A
Surrounding Variants
1 paper
NM_000162.5
p.N240K
c.720T>G
1 paper
NM_000162.5
p.V241L
c.721G>T
1 paper
NM_000162.5
p.V241L
c.721G>C
1 paper
NM_000162.5
p.V241M
c.721G>A
1 paper
NM_000162.5
p.N240I
c.719A>T
1 paper
NM_000162.5
p.N240T
c.719A>C
3 papers
NM_000162.5
p.V241A
c.722T>C
1 paper
NM_000162.5
p.N240D
c.718A>G
1 paper
NM_000162.5
p.E242*
c.724G>T
1 paper
NM_000162.5
p.Q239L
c.716A>T
13 papers
NM_000162.5
p.Q239R
c.716A>G
1 paper
NM_000162.5
p.Q239P
c.716A>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."