Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A454T

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.A454T
c.1360G>A
Surrounding Variants
3 papers
NM_000162.5
p.A454S
c.1360G>T
3 papers
NM_000162.5
p.A454P
c.1360G>C
1 paper
NM_000162.5
p.S453S
c.1359G>T
9 papers
NM_000162.5
p.A454V
c.1361C>T
3 papers
NM_000162.5
p.A454G
c.1361C>G
9 papers
NM_000162.5
p.A454E
c.1361C>A
2 papers
NM_000162.5
p.A454delFs
c.1360delC
2 papers
NM_000162.5
p.A454fs
c.1360_1361fs
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
5 papers
NM_000162.5
p.S453A
c.1357T>G
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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."