Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E312D

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.E312D
c.936A>T
Surrounding Variants
1 paper
NM_000162.5
p.E312D
c.936A>C
1 paper
NM_000162.5
p.N313Y
c.937A>T
1 paper
NM_000162.5
p.E312V
c.935A>T
1 paper
NM_000162.5
p.N313_L314ins11
c.937_941ins33
1 paper
NM_000162.5
p.E312_N313ins11
c.934_938ins33
2 papers
NM_000162.5
p.E312Q
c.934G>C
2 papers
NM_000162.5
p.E312K
c.934G>A
1 paper
NM_000162.5
p.E312_N313insFs
c.934_937dup4
5 papers
NM_000162.5
p.D311fs
c.931_932fs
1 paper
NM_000162.5
p.N313fs
c.937_938fs
1 paper
NM_000162.5
p.N313insFs
c.938dupA
1 paper
NM_000162.5
p.N313delFs
c.938delT
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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."