Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N283delFs

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.N283delFs
c.848delT
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.P284S
c.850C>T
1 paper
NM_000162.5
p.N283I
c.848A>T
1 paper
NM_000162.5
p.N283fs
c.847_848fs
1 paper
NM_000162.5
p.P284fs
c.850_851fs
1 paper
NM_000162.5
p.P284P
c.852C>A
1 paper
NM_000162.5
p.A282fs
c.844_845fs
1 paper
NM_000162.5
p.G285fs
c.853_854fs
1 paper
NM_000162.5
p.G285C
c.853G>T
2 papers
NM_000162.5
p.G285R
c.853G>C
1 paper
NM_000162.5
p.G285S
c.853G>A
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