Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F171L

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
8 papers
NM_000162.5
p.F171L
c.513C>A
Surrounding Variants
8 papers
NM_000162.5
p.F171L
c.513C>G
2 papers
NM_000162.5
p.F171C
c.512T>G
2 papers
NM_000162.5
p.F171S
c.512T>C
1 paper
NM_000162.5
p.F171V
c.511T>G
8 papers
NM_000162.5
p.F171L
c.511T>C
3 papers
NM_000162.5
p.K172K
c.516G>A
5 papers
NM_000162.5
p.A173S
c.517G>T
2 papers
NM_000162.5
p.G170V
c.509G>T
3 papers
NM_000162.5
p.A173P
c.517G>C
3 papers
NM_000162.5
p.G170A
c.509G>C
6 papers
NM_000162.5
p.A173T
c.517G>A
4 papers
NM_000162.5
p.G170D
c.509G>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."