Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V452L

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
11 papers
NM_000162.5
p.V452L
c.1354G>C
Surrounding Variants
2 papers
NM_000162.5
p.V452I
c.1354G>A
1 paper
NM_000162.5
p.V452G
c.1355T>G
2 papers
NM_000162.5
p.V452A
c.1355T>C
1 paper
NM_000162.5
p.A449_L451del3
c.1345_1352del9
3 papers
NM_000162.5
p.L451P
c.1352T>C
5 papers
NM_000162.5
p.S453A
c.1357T>G
1 paper
NM_000162.5
p.L451V
c.1351C>G
15 papers
NM_000162.5
p.S453L
c.1358C>T
NM_001354801.1
p.S116L
c.347C>T
NM_001354802.1
p.S73L
c.218C>T
3 papers
NM_000162.5
p.S453W
c.1358C>G
2 papers
NM_000162.5
p.S453*
c.1358C>A
1 paper
NM_000162.5
p.S453S
c.1359G>T
7 papers
NM_000162.5
p.A450V
c.1349C>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."