Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L430_P432del0

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.L430_P432del0
c.1289_1294del6
Surrounding Variants
2 papers
NM_000162.5
p.P432H
c.1295C>A
1 paper
NM_000162.5
p.P432fs
c.1294_1295fs
1 paper
NM_000162.5
p.S433N
c.1298G>A
1 paper
NM_000162.5
p.T431K
c.1292C>A
1 paper
NM_000162.5
p.T431S
c.1291A>T
2 papers
NM_000162.5
p.T431A
c.1291A>G
1 paper
NM_000162.5
p.L430del1
c.1288_1289delCAG
1 paper
NM_000162.5
p.C434G
c.1300T>G
1 paper
NM_000162.5
p.C434R
c.1300T>C
1 paper
NM_000162.5
p.L430P
c.1289T>C
3 papers
NM_000162.5
p.C434F
c.1301G>T
6 papers
NM_000162.5
p.C434Y
c.1301G>A
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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."