Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V62M

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
46 papers
NM_000162.5
p.V62M
c.184G>A
Surrounding Variants
6 papers
NM_000162.5
p.V62L
c.184G>T
6 papers
NM_000162.5
p.V62L
c.184G>C
1 paper
NM_000162.5
p.V62insFs
c.185_186insA
2 papers
NM_000162.5
p.V62G
c.185T>G
18 papers
NM_000162.5
p.V62A
c.185T>C
4 papers
NM_000162.5
p.V62E
c.185T>A
16 papers
NM_000162.5
p.Y61*
c.183C>G
1 paper
NM_033507.3
p.Y62insFs
c.185_186insA
16 papers
NM_000162.5
p.Y61*
c.183C>A
1 paper
NM_000162.5
p.Y61delins
c.181_183delinsCAA
2 papers
NM_000162.5
p.Y61F
c.182A>T
8 papers
NM_000162.5
p.Y61C
c.182A>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."