Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N283I

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.N283I
c.848A>T
Surrounding Variants
1 paper
NM_000162.5
p.N283K
c.849C>G
1 paper
NM_000162.5
p.N283K
c.849C>A
1 paper
NM_000162.5
p.N283delFs
c.848delT
1 paper
NM_000162.5
p.N283fs
c.847_848fs
1 paper
NM_000162.5
p.P284S
c.850C>T
1 paper
NM_000162.5
p.A282fs
c.844_845fs
3 papers
NM_000162.5
p.A282V
c.845C>T
3 papers
NM_000162.5
p.A282G
c.845C>G
3 papers
NM_000162.5
p.A282E
c.845C>A
3 papers
NM_000162.5
p.A282S
c.844G>T
3 papers
NM_000162.5
p.A282P
c.844G>C
5 papers
NM_000162.5
p.A282T
c.844G>A
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