Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F260V

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
3 papers
NM_000162.5
p.F260V
c.778T>G
Surrounding Variants
1 paper
NM_000162.5
p.F260L
c.778T>C
2 papers
NM_000162.5
p.F260I
c.778T>A
1 paper
NM_000162.5
p.F260C
c.779T>G
1 paper
NM_000162.5
p.F260S
c.779T>C
7 papers
NM_000162.5
p.A259V
c.776C>T
3 papers
NM_000162.5
p.A259G
c.776C>G
1 paper
NM_000162.5
p.F260L
c.780C>G
1 paper
NM_000162.5
p.F260fs
c.778_779fs
3 papers
NM_000162.5
p.A259D
c.776C>A
1 paper
NM_000162.5
p.F260L
c.780C>A
1 paper
NM_000162.5
p.F260delFs
c.779delA
5 papers
NM_000162.5
p.A259S
c.775G>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."