Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L45P

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
4 papers
NM_000162.5
p.L45P
c.134T>C
Surrounding Variants
3 papers
NM_000162.5
p.L45R
c.134T>G
4 papers
NM_000162.5
p.L45Q
c.134T>A
1 paper
NM_000162.5
p.L45L
c.135G>A
3 papers
NM_000162.5
p.L45V
c.133C>G
3 papers
NM_000162.5
p.L45M
c.133C>A
1 paper
NM_000162.5
p.G44fs
c.130_131fs
2 papers
NM_000162.5
p.G44delFs
c.131delC
4 papers
NM_000162.5
p.R46W
c.136A>T
3 papers
NM_000162.5
p.R46G
c.136A>G
7 papers
NM_000162.5
p.R46M
c.137G>T
3 papers
NM_000162.5
p.G44V
c.131G>T
4 papers
NM_000162.5
p.G44A
c.131G>C
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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."