Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K39E

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
3 papers
NM_000162.5
p.K39E
c.115A>G
Surrounding Variants
3 papers
NM_000162.5
p.K39Q
c.115A>C
3 papers
NM_000162.5
p.Q38H
c.114G>T
3 papers
NM_000162.5
p.Q38H
c.114G>C
3 papers
NM_000162.5
p.K39M
c.116A>T
5 papers
NM_000162.5
p.K39R
c.116A>G
4 papers
NM_000162.5
p.K39T
c.116A>C
3 papers
NM_000162.5
p.K39N
c.117G>T
3 papers
NM_000162.5
p.K39N
c.117G>C
2 papers
NM_000162.5
p.K39delFs
c.115delT
4 papers
NM_000162.5
p.Q38L
c.113A>T
3 papers
NM_000162.5
p.Q38R
c.113A>G
11 papers
NM_000162.5
p.Q38P
c.113A>C
NM_033507.3
p.Q39P
c.116A>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."