Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y215Y

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.Y215Y
c.645C>T
Surrounding Variants
18 papers
NM_000162.5
p.Y215*
c.645C>G
19 papers
NM_000162.5
p.Y215*
c.645C>A
1 paper
NM_000162.5
p.M210_Y215del0
c.630_644del15
1 paper
NM_000162.5
p.E216*
c.646G>T
3 papers
NM_000162.5
p.E216K
c.646G>A
2 papers
NM_000162.5
p.Y215F
c.644A>T
3 papers
NM_000162.5
p.Y215C
c.644A>G
NM_033508.3
p.Y214C
c.641A>G
1 paper
NM_000162.5
p.E216A
c.647A>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
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