Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D217E

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.D217E
c.651C>A
Surrounding Variants
2 papers
NM_000162.5
p.D217E
c.651C>G
4 papers
NM_000162.5
p.D217V
c.650A>T
10 papers
NM_000162.5
p.D217N
c.649G>A
1 paper
NM_000162.5
p.H218Q
c.654T>G
1 paper
NM_000162.5
p.H218Q
c.654T>A
2 papers
NM_000162.5
p.E216D
c.648A>T
2 papers
NM_000162.5
p.E216D
c.648A>C
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.E216A
c.647A>C
1 paper
NM_000162.5
p.E216*
c.646G>T
3 papers
NM_000162.5
p.E216K
c.646G>A
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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."