Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E256K

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
45 papers
NM_000162.5
p.E256K
c.766G>A
Surrounding Variants
1 paper
NM_000162.5
p.E256*
c.766G>T
2 papers
NM_000162.5
p.E256Q
c.766G>C
7 papers
NM_000162.5
p.E256A
c.767A>C
2 papers
NM_000162.5
p.E256D
c.768G>T
2 papers
NM_000162.5
p.E256fs
c.766_767fs
3 papers
NM_000162.5
p.T255_E256insFs
c.764_767dup4
2 papers
NM_000162.5
p.E256D
c.768G>C
8 papers
NM_000162.5
p.T255I
c.764C>T
5 papers
NM_000162.5
p.T255S
c.764C>G
3 papers
NM_000162.5
p.T255N
c.764C>A
16 papers
NM_000162.5
p.W257R
c.769T>C
16 papers
NM_000162.5
p.W257R
c.769T>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."