Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D187D

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.D187D
c.561C>T
Surrounding Variants
1 paper
NM_000162.5
p.D187E
c.561C>G
1 paper
NM_000162.5
p.D187E
c.561C>A
3 papers
NM_000162.5
p.A188S
c.562G>T
5 papers
NM_000162.5
p.A188P
c.562G>C
41 papers
NM_000162.5
p.A188T
c.562G>A
NM_033507.3
p.A189T
c.565G>A
1 paper
NM_000162.5
p.D187V
c.560A>T
1 paper
NM_000162.5
p.V181_D187delFs
c.543_559del17
3 papers
NM_000162.5
p.D187Y
c.559G>T
2 papers
NM_033507.3
p.D188N
c.562G>A
10 papers
NM_000162.5
p.A188V
c.563C>T
5 papers
NM_000162.5
p.A188G
c.563C>G
1 paper
NM_000162.5
p.A188D
c.563C>A
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