Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V222D

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
2 papers
NM_000162.5
p.V222D
c.665T>A
Surrounding Variants
1 paper
NM_000162.5
p.V222A
c.665T>C
1 paper
NM_000162.5
p.V222F
c.664G>T
3 papers
NM_033507.3
p.V223I
c.667G>A
2 papers
NM_000162.5
p.V222V
c.666C>G
1 paper
NM_000162.5
p.V222fs
c.664_665fs
2 papers
NM_000162.5
p.G223R
c.667G>C
36 papers
NM_000162.5
p.G223S
c.667G>A
1 paper
NM_000162.5
p.G223V
c.668G>T
1 paper
NM_000162.5
p.G223A
c.668G>C
1 paper
NM_000162.5
p.G223D
c.668G>A
1 paper
NM_000162.5
p.E221V
c.662A>T
1 paper
NM_000162.5
p.E221*
c.661G>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."