Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R192*

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
3 papers
NM_000162.5
p.R192*
c.574A>T
Surrounding Variants
3 papers
NM_000162.5
p.R192G
c.574A>G
3 papers
NM_000162.5
p.R192I
c.575G>T
3 papers
NM_000162.5
p.R192T
c.575G>C
7 papers
NM_000162.5
p.R192K
c.575G>A
4 papers
NM_000162.5
p.R191L
c.572G>T
5 papers
NM_000162.5
p.R191P
c.572G>C
23 papers
NM_000162.5
p.R191Q
c.572G>A
NM_033507.3
p.R192Q
c.575G>A
4 papers
NM_000162.5
p.R192S
c.576A>T
4 papers
NM_000162.5
p.R192S
c.576A>C
6 papers
NM_000162.5
p.G193W
c.577G>T
5 papers
NM_000162.5
p.G193R
c.577G>C
5 papers
NM_000162.5
p.G193R
c.577G>A
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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."