Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y61*

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
16 papers
NM_000162.5
p.Y61*
c.183C>G
Surrounding Variants
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
6 papers
NM_000162.5
p.V62L
c.184G>T
6 papers
NM_000162.5
p.V62L
c.184G>C
46 papers
NM_000162.5
p.V62M
c.184G>A
2 papers
NM_000162.5
p.Y61F
c.182A>T
8 papers
NM_000162.5
p.Y61C
c.182A>G
9 papers
NM_000162.5
p.Y61S
c.182A>C
1 paper
NM_000162.5
p.V62insFs
c.185_186insA
3 papers
NM_000162.5
p.Y61D
c.181T>G
2 papers
NM_000162.5
p.V62G
c.185T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."