Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y214C

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
45 papers
NM_000162.5
p.Y214C
c.641A>G
Surrounding Variants
1 paper
NM_000162.5
p.Y214F
c.641A>T
3 papers
NM_000162.5
p.C213_Y214del1
c.638_640delAGC
2 papers
NM_000162.5
p.Y214D
c.640T>G
1 paper
NM_000162.5
p.Y214H
c.640T>C
1 paper
NM_000162.5
p.Y214Y
c.642C>T
5 papers
NM_033507.3
p.Y215*
c.645C>G
NM_000162.5
p.Y214*
c.642C>G
4 papers
NM_000162.5
p.Y214insFs
c.641dupA
5 papers
NM_033507.3
p.Y215*
c.645C>A
NM_000162.5
p.Y214*
c.642C>A
1 paper
NM_000162.5
p.C213C
c.639C>T
2 papers
NM_000162.5
p.C213Y
c.638G>A
6 papers
NM_000162.5
p.S212_C213del1
c.635_637delAGG
2 papers
NM_000162.5
p.Y215F
c.644A>T
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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."