Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L30P

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
10 papers
NM_000162.5
p.L30P
c.89T>C
Surrounding Variants
3 papers
NM_000162.5
p.L30R
c.89T>G
3 papers
NM_000162.5
p.L30Q
c.89T>A
1 paper
NM_000162.5
p.L30delFs
c.88delG
1 paper
NM_000162.5
p.L30fs
c.88_89fs
1 paper
NM_000162.5
p.L30L
c.90G>C
1 paper
NM_000162.5
p.L30delFs
c.89delA
3 papers
NM_000162.5
p.L30V
c.88C>G
3 papers
NM_000162.5
p.L30M
c.88C>A
3 papers
NM_000162.5
p.D29E
c.87C>G
3 papers
NM_000162.5
p.D29E
c.87C>A
1 paper
NM_000162.5
p.E28del1
c.82_83delCTC
3 papers
NM_000162.5
p.K31E
c.91A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."