Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E28A

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
4 papers
NM_000162.5
p.E28A
c.83A>C
Surrounding Variants
4 papers
NM_000162.5
p.E28V
c.83A>T
3 papers
NM_000162.5
p.E28G
c.83A>G
3 papers
NM_000162.5
p.E28D
c.84G>T
5 papers
NM_033507.3
p.E29D
c.87G>C
NM_000162.5
p.E28D
c.84G>C
3 papers
NM_000162.5
p.E28Q
c.82G>C
5 papers
NM_000162.5
p.E28K
c.82G>A
1 paper
NM_000162.5
p.E28delFs
c.83delT
3 papers
NM_000162.5
p.D29Y
c.85G>T
3 papers
NM_000162.5
p.E27D
c.81G>T
6 papers
NM_000162.5
p.E27D
c.81G>C
3 papers
NM_000162.5
p.D29H
c.85G>C
4 papers
NM_000162.5
p.D29N
c.85G>A
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