Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F269L

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.F269L
c.807C>A
Surrounding Variants
2 papers
NM_000162.5
p.F269L
c.807C>G
2 papers
NM_000162.5
p.L270V
c.808C>G
1 paper
NM_000162.5
p.L270M
c.808C>A
1 paper
NM_000162.5
p.L270R
c.809T>G
2 papers
NM_000162.5
p.F269L
c.805T>C
1 paper
NM_000162.5
p.E268insFs
c.803_804insA
1 paper
NM_000162.5
p.D267_E268del1
c.801_803delTCG
3 papers
NM_000162.5
p.L271L
c.811C>T
1 paper
NM_000162.5
p.L271V
c.811C>G
1 paper
NM_000162.5
p.L271R
c.812T>G
5 papers
NM_000162.5
p.L271P
c.812T>C
4 papers
NM_000162.5
p.E268*
c.802G>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."