Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V200L

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
3 papers
NM_000162.5
p.V200L
c.598G>T
Surrounding Variants
3 papers
NM_000162.5
p.V200L
c.598G>C
4 papers
NM_000162.5
p.V200A
c.599T>C
1 paper
NM_033507.3
p.V200V
c.600G>A
2 papers
NM_000162.5
p.V199A
c.596T>C
4 papers
NM_000162.5
p.V200V
c.600G>A
6 papers
NM_000162.5
p.A201S
c.601G>T
6 papers
NM_000162.5
p.V199L
c.595G>T
6 papers
NM_000162.5
p.V199L
c.595G>C
4 papers
NM_000162.5
p.A201P
c.601G>C
4 papers
NM_000162.5
p.V199M
c.595G>A
3 papers
NM_000162.5
p.A201T
c.601G>A
1 paper
NM_000162.5
p.D198E
c.594T>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."