Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E67V

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
5 papers
NM_000162.5
p.E67V
c.200A>T
Surrounding Variants
2 papers
NM_000162.5
p.E67G
c.200A>G
2 papers
NM_000162.5
p.E67A
c.200A>C
2 papers
NM_000162.5
p.E67*
c.199G>T
2 papers
NM_000162.5
p.E67Q
c.199G>C
3 papers
NM_000162.5
p.E67K
c.199G>A
2 papers
NM_000162.5
p.E67D
c.201A>T
2 papers
NM_000162.5
p.E67D
c.201A>C
3 papers
NM_000162.5
p.G68C
c.202G>T
1 paper
NM_000162.5
p.G68R
c.202G>C
3 papers
NM_000162.5
p.G68S
c.202G>A
1 paper
NM_000162.5
p.P66P
c.198A>G
1 paper
NM_000162.5
p.P66delFs
c.197delG
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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."