Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C220Y

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
10 papers
NM_000162.5
p.C220Y
c.659G>A
Surrounding Variants
4 papers
NM_000162.5
p.C220S
c.659G>C
3 papers
NM_000162.5
p.C220R
c.658T>C
4 papers
NM_000162.5
p.C220S
c.658T>A
1 paper
NM_000162.5
p.C220C
c.660C>T
1 paper
NM_000162.5
p.C220W
c.660C>G
16 papers
NM_000162.5
p.C220*
c.660C>A
1 paper
NM_000162.5
p.E221*
c.661G>T
28 papers
NM_000162.5
p.E221K
c.661G>A
1 paper
NM_000162.5
p.E221V
c.662A>T
1 paper
NM_000162.5
p.Q219fs
c.655_656fs
3 papers
NM_000162.5
p.Q219*
c.655C>T
1 paper
NM_000162.5
p.H218Q
c.654T>G
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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."