Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A114_T118delFs

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.A114_T118delFs
c.341_353del13
Surrounding Variants
1 paper
NM_000162.5
p.T118fs
c.352_353fs
3 papers
NM_000162.5
p.A119S
c.355G>T
3 papers
NM_000162.5
p.A119P
c.355G>C
5 papers
NM_000162.5
p.A119T
c.355G>A
3 papers
NM_000162.5
p.T118I
c.353C>T
2 papers
NM_000162.5
p.M115_G117del3
c.343_350del9
2 papers
NM_000162.5
p.T118fs
c.352_353fs
3 papers
NM_000162.5
p.A119V
c.356C>T
4 papers
NM_000162.5
p.A119G
c.356C>G
9 papers
NM_000162.5
p.A119D
c.356C>A
1 paper
NM_000162.5
p.G117fs
c.349_350fs
2 papers
NM_000162.5
p.G117V
c.350G>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."