Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K39del1

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
6 papers
NM_000162.5
p.K39del1
c.115_117delCTT
Surrounding Variants
3 papers
NM_000162.5
p.E40Q
c.118G>C
24 papers
NM_000162.5
p.E40K
c.118G>A
NM_033507.3
p.E41K
c.121G>A
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.E40V
c.119A>T
4 papers
NM_000162.5
p.E40G
c.119A>G
3 papers
NM_000162.5
p.E40A
c.119A>C
3 papers
NM_000162.5
p.V33_K39ins2
c.97_117dup21
5 papers
NM_000162.5
p.E40D
c.120G>T
5 papers
NM_000162.5
p.E40D
c.120G>C
3 papers
NM_000162.5
p.K39M
c.116A>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."