Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q106_P111delFs

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.Q106_P111delFs
c.317_333del17
Surrounding Variants
1 paper
NM_000162.5
p.E112Q
c.334G>C
3 papers
NM_000162.5
p.E112K
c.334G>A
1 paper
NM_000162.5
p.P111P
c.333C>A
1 paper
NM_000162.5
p.E112E
c.336G>A
5 papers
NM_000162.5
p.P111L
c.332C>T
3 papers
NM_000162.5
p.P111A
c.331C>G
3 papers
NM_000162.5
p.P111T
c.331C>A
1 paper
NM_000162.5
p.D113G
c.338A>G
6 papers
NM_000162.5
p.I110T
c.329T>C
3 papers
NM_000162.5
p.I110N
c.329T>A
1 paper
NM_000162.5
p.D113D
c.339C>T
3 papers
NM_000162.5
p.A114S
c.340G>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."