Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E70Q

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.E70Q
c.208G>C
Surrounding Variants
1 paper
NM_000162.5
p.E70*
c.208G>T
8 papers
NM_000162.5
p.E70K
c.208G>A
1 paper
NM_000162.5
p.E70insFs
c.208_209ins10
4 papers
NM_000162.5
p.E70Splc
c.208+1G>A
2 papers
NM_000162.5
p.S69S
c.207A>G
3 papers
NM_000162.5
p.E70Splc
c.208+2T>C
2 papers
NM_000162.5
p.S69*
c.206C>G
2 papers
NM_000162.5
p.S69*
c.206C>A
5 papers
NM_000162.5
p.S69P
c.205T>C
1 paper
NM_000162.5
p.S69T
c.205T>A
3 papers
NM_000162.5
p.E70Splc
c.208+3A>T
2 papers
NM_000162.5
p.E70Splc
c.208+3A>G
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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."