Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K169E

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
6 papers
NM_000162.5
p.K169E
c.505A>G
Surrounding Variants
1 paper
NM_000162.5
p.K169Q
c.505A>C
9 papers
NM_033507.3
p.K170R
c.509A>G
NM_000162.5
p.K169R
c.506A>G
8 papers
NM_000162.5
p.K169N
c.507G>T
8 papers
NM_000162.5
p.K169N
c.507G>C
1 paper
NM_000162.5
p.K169delFs
c.505_506delTT
3 papers
NM_000162.5
p.T168I
c.503C>T
1 paper
NM_000162.5
p.T168N
c.503C>A
4 papers
NM_000162.5
p.G170S
c.508G>A
21 papers
NM_000162.5
p.T168A
c.502A>G
12 papers
NM_000162.5
p.T168P
c.502A>C
2 papers
NM_000162.5
p.G170V
c.509G>T
1 paper
NM_000162.5
p.W167C
c.501G>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."