Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.P66P

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.P66P
c.198A>G
Surrounding Variants
1 paper
NM_000162.5
p.P66delFs
c.197delG
2 papers
NM_000162.5
p.E67*
c.199G>T
2 papers
NM_000162.5
p.E67Q
c.199G>C
3 papers
NM_000162.5
p.E67K
c.199G>A
3 papers
NM_033508.3
p.P65L
c.194C>T
NM_000162.5
p.P66L
c.197C>T
2 papers
NM_000162.5
p.P66R
c.197C>G
3 papers
NM_000162.5
p.P66Q
c.197C>A
3 papers
NM_000162.5
p.P66S
c.196C>T
3 papers
NM_000162.5
p.P66A
c.196C>G
2 papers
NM_000162.5
p.P66T
c.196C>A
5 papers
NM_000162.5
p.E67V
c.200A>T
2 papers
NM_000162.5
p.E67G
c.200A>G
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