Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L20L

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
1 paper
NM_000162.5
p.L20L
c.58C>T
Surrounding Variants
3 papers
NM_000162.5
p.L20V
c.58C>G
3 papers
NM_000162.5
p.L20M
c.58C>A
5 papers
NM_000162.5
p.L20R
c.59T>G
9 papers
NM_000162.5
p.L20P
c.59T>C
3 papers
NM_000162.5
p.L20Q
c.59T>A
4 papers
NM_000162.5
p.I19M
c.57C>G
3 papers
NM_000162.5
p.I19S
c.56T>G
3 papers
NM_000162.5
p.I19T
c.56T>C
7 papers
NM_000162.5
p.I19N
c.56T>A
3 papers
NM_000162.5
p.A21S
c.61G>T
3 papers
NM_000162.5
p.A21P
c.61G>C
3 papers
NM_000162.5
p.A21T
c.61G>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."