Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F316V

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
6 papers
NM_000162.5
p.F316V
c.946T>G
Surrounding Variants
1 paper
NM_000162.5
p.F316Y
c.947T>A
3 papers
NM_000162.5
p.L315P
c.944T>C
12 papers
NM_000162.5
p.L315H
c.944T>A
11 papers
NM_000162.5
p.L315F
c.943C>T
1 paper
NM_000162.5
p.L315_F316insC
c.943_947ins3
1 paper
NM_000162.5
p.L314fs
c.940_941fs
3 papers
NM_000162.5
p.H317P
c.950A>C
NM_033507.3
p.H318P
c.953A>C
1 paper
NM_000162.5
p.L314R
c.941T>G
5 papers
NM_000162.5
p.L314P
c.941T>C
6 papers
NM_000162.5
p.H317Q
c.951C>G
6 papers
NM_000162.5
p.H317Q
c.951C>A
3 papers
NM_000162.5
p.G318W
c.952G>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."