Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E70D

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.E70D
c.210A>T
Surrounding Variants
5 papers
NM_000162.5
p.E70D
c.210A>C
1 paper
NM_000162.5
p.V71F
c.211G>T
5 papers
NM_000162.5
p.V71I
c.211G>A
NM_033507.3
p.V72I
c.214G>A
1 paper
NM_000162.5
p.E70fs
c.208_209fs
1 paper
NM_000162.5
p.V71G
c.212T>G
4 papers
NM_000162.5
p.V71A
c.212T>C
1 paper
NM_000162.5
p.V71D
c.212T>A
2 papers
NM_033508.3
p.E69Splc
c.206-1G>T
NM_000162.5
p.E70*
c.208G>T
1 paper
NM_000162.5
p.E70Q
c.208G>C
30 papers
NM_000162.5
p.E70Splc
c.209-1G>A
3 papers
NM_000162.5
p.V71V
c.213C>T
1 paper
NM_000162.5
p.V71V
c.213C>A
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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."