Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D29V

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
3 papers
NM_000162.5
p.D29V
c.86A>T
Surrounding Variants
3 papers
NM_000162.5
p.D29G
c.86A>G
3 papers
NM_000162.5
p.D29A
c.86A>C
3 papers
NM_000162.5
p.D29Y
c.85G>T
3 papers
NM_000162.5
p.D29H
c.85G>C
4 papers
NM_000162.5
p.D29N
c.85G>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.E28D
c.84G>T
5 papers
NM_033507.3
p.E29D
c.87G>C
NM_000162.5
p.E28D
c.84G>C
1 paper
NM_000162.5
p.E28delFs
c.83delT
3 papers
NM_000162.5
p.L30V
c.88C>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."