Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L276V

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.L276V
c.826C>G
Surrounding Variants
2 papers
NM_000162.5
p.L276P
c.827T>C
1 paper
NM_000162.5
p.R275R
c.825C>T
5 papers
NM_000162.5
p.R275L
c.824G>T
5 papers
NM_000162.5
p.R275P
c.824G>C
7 papers
NM_000162.5
p.R275H
c.824G>A
1 paper
NM_000162.5
p.V277M
c.829G>A
26 papers
NM_000162.5
p.R275C
c.823C>T
4 papers
NM_000162.5
p.R275G
c.823C>G
3 papers
NM_000162.5
p.R275S
c.823C>A
1 paper
NM_000162.5
p.V277Fs
c.830delinsAGFs
1 paper
NM_000162.5
p.V277delins
c.829_830delinsAG
3 papers
NM_000162.5
p.D274E
c.822C>G
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