Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D78E

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
13 papers
NM_000162.5
p.D78E
c.234C>G
Surrounding Variants
13 papers
NM_000162.5
p.D78E
c.234C>A
1 paper
NM_000162.5
p.L79V
c.235C>G
1 paper
NM_000162.5
p.L79M
c.235C>A
4 papers
NM_000162.5
p.D78G
c.233A>G
1 paper
NM_000162.5
p.D78A
c.233A>C
2 papers
NM_000162.5
p.L79P
c.236T>C
1 paper
NM_000162.5
p.D78Y
c.232G>T
6 papers
NM_000162.5
p.D78H
c.232G>C
2 papers
NM_000162.5
p.D78N
c.232G>A
4 papers
NM_000162.5
p.L77R
c.230T>G
6 papers
NM_000162.5
p.L77P
c.230T>C
1 paper
NM_000162.5
p.G80R
c.238G>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."