Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N254D

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.N254D
c.760A>G
Surrounding Variants
5 papers
NM_000162.5
p.N254H
c.760A>C
1 paper
NM_000162.5
p.V253insFs
c.758_759dupTC
2 papers
NM_000162.5
p.V253fs
c.757_758fs
4 papers
NM_000162.5
p.N254S
c.761A>G
1 paper
NM_000162.5
p.V253G
c.758T>G
3 papers
NM_000162.5
p.V253A
c.758T>C
2 papers
NM_000162.5
p.V253delFs
c.757delC
7 papers
NM_000162.5
p.V253F
c.757G>T
4 papers
NM_000162.5
p.V253L
c.757G>C
2 papers
NM_000162.5
p.V253I
c.757G>A
5 papers
NM_000162.5
p.T255S
c.763A>T
4 papers
NM_000162.5
p.T255A
c.763A>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."