Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D278E

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
12 papers
NM_000162.5
p.D278E
c.834C>A
Surrounding Variants
12 papers
NM_000162.5
p.D278E
c.834C>G
1 paper
NM_000162.5
p.D278fs
c.832_833fs
8 papers
NM_000162.5
p.E279*
c.835G>T
17 papers
NM_000162.5
p.E279Q
c.835G>C
1 paper
NM_000162.5
p.E279K
c.835G>A
1 paper
NM_000162.5
p.D278V
c.833A>T
2 papers
NM_000162.5
p.D278G
c.833A>G
1 paper
NM_000162.5
p.D278delFs
c.832delC
1 paper
NM_000162.5
p.D278Y
c.832G>T
1 paper
NM_000162.5
p.D278H
c.832G>C
1 paper
NM_000162.5
p.D278N
c.832G>A
3 papers
NM_000162.5
p.E279G
c.836A>G
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