Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.H105_Q106insFs

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.H105_Q106insFs
c.315_316insC
Surrounding Variants
1 paper
NM_000162.5
p.Q106R
c.317A>G
4 papers
NM_000162.5
p.Q106P
c.317A>C
1 paper
NM_000162.5
p.Q106H
c.318G>T
1 paper
NM_000162.5
p.Q106H
c.318G>C
2 papers
NM_000162.5
p.Q106Q
c.318G>A
1 paper
NM_000162.5
p.Q106fs
c.316_317fs
4 papers
NM_000162.5
p.Q106*
c.316C>T
1 paper
NM_000162.5
p.H105Q
c.315C>G
1 paper
NM_000162.5
p.H105fs
c.313_314fs
1 paper
NM_000162.5
p.H105Q
c.315C>A
1 paper
NM_000162.5
p.M107T
c.320T>C
1 paper
NM_000162.5
p.Q106_M107del1
c.317_319delTCT
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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."