Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L165del1

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_000162.5
p.L165del1
c.493_494delGAG
Surrounding Variants
1 paper
NM_000162.5
p.L164_L165del1
c.492_494delAGA
1 paper
NM_000162.5
p.N166I
c.497A>T
2 papers
NM_000162.5
p.L165P
c.494T>C
3 papers
NM_000162.5
p.W167R
c.499T>C
3 papers
NM_000162.5
p.W167R
c.499T>A
5 papers
NM_000162.5
p.L165F
c.493C>T
1 paper
NM_000162.5
p.L165V
c.493C>G
6 papers
NM_000162.5
p.W167*
c.500G>A
NM_033507.3
p.W168*
c.503G>A
9 papers
NM_000162.5
p.L164P
c.491T>C
1 paper
NM_000162.5
p.L164delFs
c.490delG
1 paper
NM_000162.5
p.W167C
c.501G>T
1 paper
NM_000162.5
p.W167C
c.501G>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."