Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R36Q

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
11 papers
NM_000162.5
p.R36Q
c.107G>A
Surrounding Variants
3 papers
NM_000162.5
p.R36L
c.107G>T
11 papers
NM_000162.5
p.R36P
c.107G>C
NM_033507.3
p.R37P
c.110G>C
40 papers
NM_000162.5
p.R36W
c.106C>T
NM_033507.3
p.R37W
c.109C>T
3 papers
NM_000162.5
p.R36G
c.106C>G
3 papers
NM_000162.5
p.M37L
c.109A>T
3 papers
NM_000162.5
p.R35S
c.105A>T
5 papers
NM_000162.5
p.M37V
c.109A>G
3 papers
NM_000162.5
p.M37L
c.109A>C
3 papers
NM_000162.5
p.R35S
c.105A>C
1 paper
NM_000162.5
p.R36delFs
c.107delC
5 papers
NM_000162.5
p.M37R
c.110T>G
8 papers
NM_000162.5
p.M37T
c.110T>C
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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."