Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L306R

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.L306R
c.917T>G
Surrounding Variants
3 papers
NM_000162.5
p.L306P
c.917T>C
1 paper
NM_000162.5
p.R303_L306del0
c.908_916del9
1 paper
NM_000162.5
p.L306fs
c.916_917fs
1 paper
NM_000162.5
p.L304_V305insFs
c.912_915dup4
4 papers
NM_000162.5
p.L307F
c.919C>T
1 paper
NM_000162.5
p.L307P
c.920T>C
1 paper
NM_000162.5
p.V305L
c.913G>T
1 paper
NM_000162.5
p.V305L
c.913G>C
13 papers
NM_000162.5
p.R308W
c.922A>T
3 papers
NM_000162.5
p.R308G
c.922A>G
8 papers
NM_000162.5
p.L304P
c.911T>C
3 papers
NM_000162.5
p.R308M
c.923G>T
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