Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L48delFs

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
1 paper
NM_033507.3
p.L48delFs
c.144delC
Surrounding Variants
3 papers
NM_000162.5
p.E48V
c.143A>T
3 papers
NM_000162.5
p.E48G
c.143A>G
3 papers
NM_000162.5
p.E48A
c.143A>C
3 papers
NM_000162.5
p.E48D
c.144G>T
3 papers
NM_000162.5
p.E48D
c.144G>C
3 papers
NM_000162.5
p.E48Q
c.142G>C
14 papers
NM_000162.5
p.E48K
c.142G>A
3 papers
NM_000162.5
p.T49S
c.145A>T
4 papers
NM_000162.5
p.T49A
c.145A>G
3 papers
NM_000162.5
p.T49P
c.145A>C
1 paper
NM_000162.5
p.E48delFs
c.144delC
3 papers
NM_000162.5
p.L47R
c.140T>G
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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."