Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S212_C213del1

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
6 papers
NM_000162.5
p.S212_C213del1
c.635_637delAGG
Surrounding Variants
2 papers
NM_000162.5
p.C213Y
c.638G>A
21 papers
NM_000162.5
p.C213R
c.637T>C
1 paper
NM_000162.5
p.C213C
c.639C>T
2 papers
NM_000162.5
p.Y214D
c.640T>G
1 paper
NM_000162.5
p.Y214H
c.640T>C
1 paper
NM_000162.5
p.S212S
c.636C>T
1 paper
NM_000162.5
p.S212fs
c.634_635fs
3 papers
NM_000162.5
p.S212F
c.635C>T
1 paper
NM_000162.5
p.Y214F
c.641A>T
45 papers
NM_000162.5
p.Y214C
c.641A>G
3 papers
NM_000162.5
p.C213_Y214del1
c.638_640delAGC
1 paper
NM_000162.5
p.S212A
c.634T>G
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