Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L288Splc

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.L288Splc
c.863+5G>A
Surrounding Variants
1 paper
NM_000162.5
p.L288Splc
c.863+5G>T
2 papers
NM_000162.5
p.L288Splc
c.863+3A>G
1 paper
NM_000162.5
p.G285_L288delFs
c.854_863del10
2 papers
NM_000162.5
p.L288Splc
c.863+2T>A
3 papers
NM_000162.5
p.L288Splc
c.863+1G>T
1 paper
NM_000162.5
p.L288Splc
c.863+1G>C
7 papers
NM_000162.5
p.L288Splc
c.863+1G>A
1 paper
NM_000162.5
p.L288insFs
c.863_864insC
1 paper
NM_000162.5
p.L288R
c.863T>G
2 papers
NM_000162.5
p.L288P
c.863T>C
1 paper
NM_000162.5
p.L288Q
c.863T>A
1 paper
NM_000162.5
p.Q287L
c.860A>T
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