Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G179delFs

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_033507.3
p.G179delFs
c.537delC
NM_000162.5
p.G178delFs
c.534delC
Surrounding Variants
2 papers
NM_000162.5
p.G178V
c.533G>T
5 papers
NM_000162.5
p.G178A
c.533G>C
8 papers
NM_000162.5
p.G178E
c.533G>A
NM_033507.3
p.G179E
c.536G>A
1 paper
NM_000162.5
p.G178W
c.532G>T
4 papers
NM_000162.5
p.G178R
c.532G>C
4 papers
NM_000162.5
p.G178R
c.532G>A
7 papers
NM_000162.5
p.N180D
c.538A>G
4 papers
NM_000162.5
p.N180H
c.538A>C
2 papers
NM_000162.5
p.E177D
c.531A>T
2 papers
NM_000162.5
p.N180S
c.539A>G
2 papers
NM_000162.5
p.E177D
c.531A>C
1 paper
NM_000162.5
p.N180fs
c.538_539fs
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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."