Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V207E

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.V207E
c.620T>A
Surrounding Variants
1 paper
NM_000162.5
p.V207A
c.620T>C
2 papers
NM_000162.5
p.V207L
c.619G>T
2 papers
NM_000162.5
p.V207L
c.619G>C
5 papers
NM_000162.5
p.A208S
c.622G>T
1 paper
NM_000162.5
p.A208_T209ins10
c.622_626ins30
5 papers
NM_000162.5
p.A208P
c.622G>C
13 papers
NM_000162.5
p.A208T
c.622G>A
39 papers
NM_000162.5
p.T206M
c.617C>T
8 papers
NM_000162.5
p.A208V
c.623C>T
12 papers
NM_000162.5
p.T206R
c.617C>G
7 papers
NM_000162.5
p.A208G
c.623C>G
NM_033507.3
p.A209G
c.626C>G
3 papers
NM_000162.5
p.A208D
c.623C>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."