Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R333L

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.R333L
c.998G>T
Surrounding Variants
4 papers
NM_000162.5
p.R333P
c.998G>C
4 papers
NM_000162.5
p.R333H
c.998G>A
4 papers
NM_000162.5
p.R333C
c.997C>T
3 papers
NM_000162.5
p.R333G
c.997C>G
3 papers
NM_000162.5
p.R333S
c.997C>A
1 paper
NM_000162.5
p.R333R
c.999C>A
1 paper
NM_000162.5
p.F334L
c.1000T>C
1 paper
NM_000162.5
p.T332M
c.995C>T
1 paper
NM_000162.5
p.T332R
c.995C>G
3 papers
NM_000162.5
p.T332K
c.995C>A
1 paper
NM_000162.5
p.F334L
c.1002C>G
1 paper
NM_000162.5
p.F334fs
c.1000_1001fs
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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."