Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N180H

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.N180H
c.538A>C
Surrounding Variants
7 papers
NM_000162.5
p.N180D
c.538A>G
2 papers
NM_000162.5
p.N180S
c.539A>G
1 paper
NM_000162.5
p.N180fs
c.538_539fs
12 papers
NM_000162.5
p.N180K
c.540T>G
11 papers
NM_000162.5
p.N180K
c.540T>A
1 paper
NM_000162.5
p.N180delFs
c.540delA
3 papers
NM_033507.3
p.G179delFs
c.537delC
NM_000162.5
p.G178delFs
c.534delC
5 papers
NM_000162.5
p.V181A
c.542T>C
2 papers
NM_000162.5
p.V181D
c.542T>A
2 papers
NM_000162.5
p.G178V
c.533G>T
5 papers
NM_000162.5
p.G178A
c.533G>C
8 papers
NM_000162.5
p.G178E
c.533G>A
NM_033507.3
p.G179E
c.536G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."