Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R64H

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
7 papers
NM_033507.3
p.R64H
c.191G>A
NM_000162.5
p.R63H
c.188G>A
Surrounding Variants
2 papers
NM_000162.5
p.R63L
c.188G>T
2 papers
NM_000162.5
p.R63P
c.188G>C
6 papers
NM_000162.5
p.R63C
c.187C>T
4 papers
NM_000162.5
p.R63G
c.187C>G
1 paper
NM_000162.5
p.R63fs
c.187_188fs
5 papers
NM_000162.5
p.R63S
c.187C>A
1 paper
NM_000162.5
p.R63R
c.189C>A
1 paper
NM_000162.5
p.V62delFs
c.186delC
3 papers
NM_000162.5
p.S64A
c.190T>G
13 papers
NM_000162.5
p.S64P
c.190T>C
2 papers
NM_000162.5
p.S64T
c.190T>A
1 paper
NM_000162.5
p.V62insFs
c.185_186insA
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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."