Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G264S

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
33 papers
NM_000162.5
p.G264S
c.790G>A
NM_033507.3
p.G265S
c.793G>A
Surrounding Variants
3 papers
NM_000162.5
p.G264D
c.791G>A
NM_033507.3
p.G265D
c.794G>A
2 papers
NM_000162.5
p.S263S
c.789C>T
1 paper
NM_000162.5
p.G264G
c.792C>T
2 papers
NM_000162.5
p.S263C
c.788C>G
1 paper
NM_000162.5
p.S263A
c.787T>G
23 papers
NM_000162.5
p.S263P
c.787T>C
3 papers
NM_000162.5
p.E265*
c.793G>T
1 paper
NM_000162.5
p.E265Q
c.793G>C
19 papers
NM_000162.5
p.E265K
c.793G>A
1 paper
NM_000162.5
p.D262fs
c.784_785fs
1 paper
NM_000162.5
p.E265V
c.794A>T
1 paper
NM_000162.5
p.D262delFs
c.784delC
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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."