Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K90T

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
2 papers
NM_000162.5
p.K90T
c.269A>C
Surrounding Variants
5 papers
NM_000162.5
p.K90R
c.269A>G
2 papers
NM_000162.5
p.K90K
c.270G>A
1 paper
NM_000162.5
p.K90*
c.268A>T
1 paper
NM_000162.5
p.K90E
c.268A>G
1 paper
NM_000162.5
p.L88_V89delFs
c.263_267del5
18 papers
NM_000162.5
p.V91L
c.271G>T
19 papers
NM_000162.5
p.V91L
c.271G>C
1 paper
NM_000162.5
p.V91G
c.272T>G
1 paper
NM_000162.5
p.V89G
c.266T>G
1 paper
NM_000162.5
p.V89fs
c.265_266fs
1 paper
NM_000162.5
p.L88L
c.264G>A
1 paper
NM_000162.5
p.L88R
c.263T>G
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