Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V455E

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
12 papers
NM_000162.5
p.V455E
c.1364T>A
Surrounding Variants
7 papers
NM_000162.5
p.A454_V455ins0
c.1361_1363dupCGG
NM_033507.3
p.V455ins1
c.1364_1365insCGG
1 paper
NM_000162.5
p.V455A
c.1364T>C
4 papers
NM_000162.5
p.V455L
c.1363G>T
5 papers
NM_000162.5
p.V455L
c.1363G>C
55 papers
NM_000162.5
p.V455M
c.1363G>A
1 paper
NM_000162.5
p.V452_A454del3
c.1354_1361del9
3 papers
NM_000162.5
p.A456S
c.1366G>T
2 papers
NM_000162.5
p.A454fs
c.1360_1361fs
3 papers
NM_000162.5
p.A456P
c.1366G>C
3 papers
NM_000162.5
p.A456T
c.1366G>A
59 papers
NM_000162.5
p.A456V
c.1367C>T
9 papers
NM_000162.5
p.A454V
c.1361C>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."