Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M121_L122Splc

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.M121_L122Splc
c.363+9C>T
Surrounding Variants
1 paper
NM_000162.5
p.M121_L122Splc
c.363+6C>A
1 paper
NM_000162.5
p.M121_L122Splc
c.363+1G>T
1 paper
NM_000162.5
p.M121_L122Splc
c.363+1G>C
2 papers
NM_000162.5
p.M121_L122Splc
c.363+1G>A
1 paper
NM_000162.5
p.M121I
c.363G>T
1 paper
NM_000162.5
p.M121I
c.363G>C
1 paper
NM_000162.5
p.M121I
c.363G>A
1 paper
NM_000162.5
p.M121delFs
c.362delA
1 paper
NM_000162.5
p.E120A
c.359A>C
4 papers
NM_000162.5
p.G117_E120delFs
c.351_358del8
2 papers
NM_000162.5
p.E120K
c.358G>A
3 papers
NM_000162.5
p.A119V
c.356C>T
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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."